ClinVar Miner

Submissions for variant NM_000883.4(IMPDH1):c.875-16C>G

gnomAD frequency: 0.00001  dbSNP: rs767333304
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073270 SCV001238806 uncertain significance Retinal dystrophy 2018-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558649 SCV004280562 likely benign not provided 2023-07-29 criteria provided, single submitter clinical testing

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