ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.45+37_46-30del

dbSNP: rs786205125
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000034352 SCV001725939 benign Amelocerebrohypohidrotic syndrome 2022-08-09 criteria provided, single submitter clinical testing
OMIM RCV000034352 SCV000058333 pathogenic Amelocerebrohypohidrotic syndrome 2013-02-01 no assertion criteria provided literature only

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