ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1623C>T (p.Phe541=)

gnomAD frequency: 0.00004  dbSNP: rs749416988
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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
Eurofins Ntd Llc (ga) RCV000296243 SCV000337872 uncertain significance not provided 2015-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000296243 SCV001662533 likely benign not provided 2024-08-31 criteria provided, single submitter clinical testing

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