ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.354C>T (p.Asn118=)

gnomAD frequency: 0.00001  dbSNP: rs1798504836
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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 RCV001202310 SCV001373418 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890346 SCV004704799 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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