ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.621C>G (p.Pro207=)

dbSNP: rs1222577461
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001487673 SCV001692169 likely benign Arterial tortuosity syndrome 2019-02-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900686 SCV004711398 likely benign SLC2A10-related disorder 2021-09-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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