ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.828C>T (p.Thr276=)

gnomAD frequency: 0.00011  dbSNP: rs370429139
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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 RCV000465056 SCV000556758 likely benign Hypertrophic cardiomyopathy 1 2023-03-23 criteria provided, single submitter clinical testing
GeneDx RCV001637037 SCV001850455 likely benign not provided 2021-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022935 SCV002679193 likely benign not specified 2019-11-24 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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