ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1995G>T (p.Arg665=)

gnomAD frequency: 0.00001  dbSNP: rs894319387
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001414461 SCV001616599 likely benign 3-methylglutaconic aciduria, type VIIB 2024-01-04 criteria provided, single submitter clinical testing

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