ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.252G>A (p.Val84=)

gnomAD frequency: 0.00001  dbSNP: rs878855129
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231255 SCV000290947 likely benign Arterial tortuosity syndrome 2024-06-02 criteria provided, single submitter clinical testing
GeneDx RCV001556651 SCV001778268 likely benign not provided 2020-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020883 SCV005029114 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-19 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800356 SCV005422659 likely benign not specified 2024-10-20 criteria provided, single submitter clinical testing

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