ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys) (rs121912554)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015963 SCV000036230 pathogenic Leber congenital amaurosis 11 2006-01-01 no assertion criteria provided literature only

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