ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.503-8C>A

gnomAD frequency: 0.00001  dbSNP: rs606231313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609841 SCV000727903 likely benign not specified 2018-02-23 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 RCV001525237 SCV001735286 uncertain significance Cardiomyopathy 2021-02-17 criteria provided, single submitter clinical testing This variant causes a C to A nucleotide substitution at the -8 position of intron 5 of the MYH7 gene. Splice prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/282858 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV002528673 SCV003288897 likely benign Hypertrophic cardiomyopathy 2023-12-10 criteria provided, single submitter clinical testing

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