ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.183G>C (p.Pro61=)

dbSNP: rs774187595
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527350 SCV000637286 likely benign Shprintzen-Goldberg syndrome 2023-08-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002292560 SCV002585015 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing SKI: PM2:Supporting, BP4, BP7
Ambry Genetics RCV002413502 SCV002715080 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-23 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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