ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.714C>T (p.Arg238=)

gnomAD frequency: 0.00004  dbSNP: rs767322805
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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 RCV000872296 SCV001014089 likely benign Amelocerebrohypohidrotic syndrome 2024-03-28 criteria provided, single submitter clinical testing

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