ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.588C>G (p.Leu196=)

dbSNP: rs766970849
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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 RCV002085342 SCV002378405 likely benign Amelocerebrohypohidrotic syndrome 2022-10-17 criteria provided, single submitter clinical testing

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