ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.456C>T (p.Arg152=)

gnomAD frequency: 0.00976  dbSNP: rs149898447
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128045 SCV000171636 benign not specified 2014-05-19 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 RCV000228536 SCV000287841 benign Shprintzen-Goldberg syndrome 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000128045 SCV000309363 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002310707 SCV000319402 benign Familial thoracic aortic aneurysm and aortic dissection 2015-02-05 criteria provided, single submitter clinical testing This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000228536 SCV001156537 benign Shprintzen-Goldberg syndrome 2023-11-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262746 SCV002543840 benign not provided 2024-07-01 criteria provided, single submitter clinical testing SKI: BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV000228536 SCV002804281 likely benign Shprintzen-Goldberg syndrome 2021-07-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000128045 SCV003929312 benign not specified 2023-04-04 criteria provided, single submitter clinical testing

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