ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.610G>A (p.Gly204Ser)

gnomAD frequency: 0.00006  dbSNP: rs755339268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247481 SCV000318492 uncertain significance Cardiovascular phenotype 2013-02-28 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp RCV003611506 SCV004552905 likely benign Arterial tortuosity syndrome 2023-12-10 criteria provided, single submitter clinical testing

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