ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.6309G>A (p.Pro2103=)

dbSNP: rs367790421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001101597 SCV001258221 uncertain significance Age related macular degeneration 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002554976 SCV002940080 likely benign not provided 2022-02-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002554976 SCV004123976 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing HMCN1: BP4, BP7

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