ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.845_846insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Pro282_Glu283insSerArgTrpGlyPheCysTrpAlaTer)

dbSNP: rs1555874223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311150 SCV000320263 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-11 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.
Natera, Inc. RCV001276188 SCV001462116 likely benign Classic homocystinuria 2020-09-16 no assertion criteria provided clinical testing

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