ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.402+1G>T

dbSNP: rs1562998089
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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 RCV000787617 SCV000926601 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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