ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.195A>G (p.Leu65=)

gnomAD frequency: 0.00002  dbSNP: rs753636717
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000967873 SCV001115294 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890126 SCV004704801 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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