ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.1566G>A (p.Val522=)

gnomAD frequency: 0.00001  dbSNP: rs1797775957
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002130805 SCV002441840 likely benign not provided 2021-08-04 criteria provided, single submitter clinical testing

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