ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.275-12G>A

gnomAD frequency: 0.00001  dbSNP: rs750937792
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000338600 SCV000376288 uncertain significance Hypertrophic cardiomyopathy 10 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.
GeneDx RCV000427131 SCV000513820 likely benign not specified 2015-12-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001181529 SCV001346701 likely benign Cardiomyopathy 2019-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000338600 SCV003295860 likely benign Hypertrophic cardiomyopathy 10 2025-01-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995835 SCV004824011 likely benign Hypertrophic cardiomyopathy 2024-08-06 criteria provided, single submitter clinical testing

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