ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.831C>T (p.Gly277=)

dbSNP: rs142697617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001425098 SCV001627709 likely benign Arterial tortuosity syndrome 2024-10-21 criteria provided, single submitter clinical testing
GeneDx RCV002285483 SCV002575180 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV003160703 SCV003854337 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-02-03 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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