ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3000C>T (p.Ala1000=) (rs141546581)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620197 SCV000739272 likely benign Cardiovascular phenotype 2016-01-12 criteria provided, single submitter clinical testing
Invitae RCV000648773 SCV000770594 likely benign Aortic aneurysm, familial thoracic 7 2017-09-11 criteria provided, single submitter clinical testing
GeneDx RCV000827611 SCV000969266 likely benign not provided 2018-05-31 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.

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