ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.292C>T (p.Leu98=)

gnomAD frequency: 0.00001  dbSNP: rs1366205416
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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 RCV001426088 SCV001628733 likely benign Amelocerebrohypohidrotic syndrome 2021-01-19 criteria provided, single submitter clinical testing

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