ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1440G>A (p.Ser480=)

gnomAD frequency: 0.00016  dbSNP: rs185754530
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595450 SCV000701754 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000866394 SCV000731086 likely benign not provided 2019-05-23 criteria provided, single submitter clinical testing
Invitae RCV001521663 SCV001731043 benign Shprintzen-Goldberg syndrome 2022-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395515 SCV002700209 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-15 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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