ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1782C>T (p.Tyr594=)

gnomAD frequency: 0.00001  dbSNP: rs368622318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001505155 SCV001710046 likely benign not provided 2021-03-29 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888232 SCV004704763 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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