ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2797G>T (p.Glu933Ter)

dbSNP: rs1569164733
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular and Clinical Genetics, Institute of Human Genetics P.A.S. RCV000758013 SCV000882865 pathogenic Familial aplasia of the vermis; Primary ciliary dyskinesia 2018-10-10 no assertion criteria provided clinical testing

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