ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.68G>T (p.Gly23Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shaine Morris Lab, Baylor College of Medicine RCV003313765 SCV004012903 likely pathogenic Arterial tortuosity syndrome 2023-07-11 criteria provided, single submitter clinical testing Classified as "suggested to be strongly pathogenic" by laboratory report in 2010. Classified as VUS in VarSome. VarSome germline classification is 4 points (5 P - 1 B). This variant for this particular patient meets ACMG criteria PP4, PP3, PM2, and PM5.

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