ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.669G>A (p.Ala223=)

gnomAD frequency: 0.00006  dbSNP: rs143402543
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 RCV000902452 SCV001046874 likely benign Amelocerebrohypohidrotic syndrome 2024-08-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815457 SCV002063488 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ROGDI: BP4, BP7

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