ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.194C>T (p.Thr65Ile)

gnomAD frequency: 0.00003  dbSNP: rs747109352
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172057 SCV000051014 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001444325 SCV001647322 likely benign Hypertrophic cardiomyopathy 1 2023-07-21 criteria provided, single submitter clinical testing

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