ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.978G>C (p.Gln326His)

dbSNP: rs1584727989
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787841 SCV000926855 uncertain significance Leber congenital amaurosis 2018-04-01 no assertion criteria provided research

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