ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4800G>A (p.Arg1600=)

gnomAD frequency: 0.00086  dbSNP: rs111901174
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245273 SCV000315308 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000475445 SCV000560676 benign Aortic aneurysm, familial thoracic 7 2023-11-21 criteria provided, single submitter clinical testing
GeneDx RCV001697628 SCV000722340 likely benign not provided 2021-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338809 SCV002636432 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-03-02 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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