ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.6G>A (p.Ala2=)

gnomAD frequency: 0.00003  dbSNP: rs201983158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650232 SCV000772072 benign Hypertrophic cardiomyopathy 1 2024-02-14 criteria provided, single submitter clinical testing
GeneDx RCV001644732 SCV001858518 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025801 SCV002665307 likely benign not specified 2021-04-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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