ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.201-15C>T

gnomAD frequency: 0.00004  dbSNP: rs369198714
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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 RCV002180947 SCV002479162 likely benign Amelocerebrohypohidrotic syndrome 2024-07-15 criteria provided, single submitter clinical testing

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