ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.625-17G>A

gnomAD frequency: 0.00001  dbSNP: rs771274447
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614934 SCV000713991 likely benign not provided 2020-02-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003497860 SCV004323261 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-11-14 criteria provided, single submitter clinical testing

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