ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.46-11C>T

gnomAD frequency: 0.00006  dbSNP: rs368078091
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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 RCV002152880 SCV002417998 likely benign Amelocerebrohypohidrotic syndrome 2023-06-05 criteria provided, single submitter clinical testing

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