ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1096-5G>A

gnomAD frequency: 0.00005  dbSNP: rs566936949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001716093 SCV001943917 likely benign not provided 2020-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039973 SCV003526929 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-04-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003631212 SCV004512888 likely benign Shprintzen-Goldberg syndrome 2023-04-22 criteria provided, single submitter clinical testing

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