ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.960C>T (p.Ala320=)

gnomAD frequency: 0.00001  dbSNP: rs369162285
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001444003 SCV001646995 likely benign Arterial tortuosity syndrome 2023-10-22 criteria provided, single submitter clinical testing

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