ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2013G>A (p.Gln671=)

gnomAD frequency: 0.00002  dbSNP: rs1040803635
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757766 SCV000886112 likely benign not provided 2017-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001482689 SCV001687063 likely benign Shprintzen-Goldberg syndrome 2024-10-07 criteria provided, single submitter clinical testing
GeneDx RCV000757766 SCV001881526 benign not provided 2016-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418469 SCV002720309 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-08-19 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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