GUIDELINES

GUIDELINES & RECOMMENDATIONS

Members of the Society have formulated Guidelines & Recommendations on a number of topics, but especailly for nomenclature of gene variations and guidelines on variation databases.

GUIDELINES FOR VARIATION NOMENCLATURE

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Nomenclature for the description of sequence variations (including Opinion & Proposal)

Nomenclature Archive Former HGVS variant description page

GUIDELINES FOR GENE NOMENCLATURE

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HGNC - Guidelines for human gene nomenclature

RECOMMENDATIONS FOR LOCUS SPECIFC DATABASES

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Sharing data between LSDBs and central repositories
Publication

MDI/HGVS Variation Submission Form Recommendations
Suggested Mutation Entry (& Quality Control) Form

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FORM FOR ORDERING GENETIC TESTS

A Structured Simple Form for Ordering Genetic Tests Is Needed to Ensure Coupling of Clinical Detail (Phenotype) with DNA Variants (Genotype) to Ensure Utility in Publication and Databases.