ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.225C>T (p.His75=)

dbSNP: rs1553189880
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638895 SCV000760449 likely benign Shprintzen-Goldberg syndrome 2022-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448988 SCV002733832 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-10-20 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724113 SCV001957746 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724113 SCV001974906 likely benign not provided no assertion criteria provided clinical testing

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