ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1734C>T (p.Ser578=)

gnomAD frequency: 0.00046  dbSNP: rs117443908
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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 RCV000472195 SCV000560933 benign Shprintzen-Goldberg syndrome 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001696856 SCV000732538 likely benign not provided 2021-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000472195 SCV001473675 likely benign Shprintzen-Goldberg syndrome 2019-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402349 SCV002710187 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-10-23 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.

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