ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.817T>C (p.Leu273=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001499782 SCV001704557 likely benign 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2019-06-26 criteria provided, single submitter clinical testing

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