ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1743G>A (p.Ser581=)

gnomAD frequency: 0.00003  dbSNP: rs765536215
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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 RCV002110670 SCV002435790 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889067 SCV004704765 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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