ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4941C>T (p.Ile1647=)

gnomAD frequency: 0.00003  dbSNP: rs200291268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470973 SCV000560681 likely benign Aortic aneurysm, familial thoracic 7 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001574189 SCV001800960 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298532 SCV003997330 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-04-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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