ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.844C>A (p.Arg282=)

gnomAD frequency: 0.00003  dbSNP: rs753783431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311194 SCV000320468 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-11-06 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.
GeneDx RCV000600461 SCV000721627 likely benign not specified 2017-08-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000638902 SCV000760456 likely benign Shprintzen-Goldberg syndrome 2023-10-22 criteria provided, single submitter clinical testing

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