ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.117+20C>G

gnomAD frequency: 0.00001  dbSNP: rs775190336
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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 RCV002144537 SCV002465525 likely benign Amelocerebrohypohidrotic syndrome 2024-07-11 criteria provided, single submitter clinical testing

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