ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2898C>T (p.Pro966=)

gnomAD frequency: 0.00012  dbSNP: rs753785049
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461268 SCV000560668 likely benign Aortic aneurysm, familial thoracic 7 2024-09-15 criteria provided, single submitter clinical testing
GeneDx RCV001569302 SCV001793349 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436501 SCV002746783 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-12-10 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.
Breakthrough Genomics, Breakthrough Genomics RCV001569302 SCV005264735 likely benign not provided criteria provided, single submitter not provided

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