ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.795G>A (p.Leu265=)

gnomAD frequency: 0.00001  dbSNP: rs749782882
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000920995 SCV001066386 likely benign Amelocerebrohypohidrotic syndrome 2023-12-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000920995 SCV003811851 uncertain significance Amelocerebrohypohidrotic syndrome 2022-10-03 criteria provided, single submitter clinical testing

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