ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1254C>T (p.Asn418=)

gnomAD frequency: 0.00013  dbSNP: rs536126761
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696757 SCV000535200 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Invitae RCV000558563 SCV000637277 benign Shprintzen-Goldberg syndrome 2024-01-16 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000441456 SCV000702109 likely benign not specified 2016-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411410 SCV002675779 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-30 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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