ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1574+1G>T

dbSNP: rs730880265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001379033 SCV001576755 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-08-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV001379033 SCV004194373 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-04-26 criteria provided, single submitter clinical testing

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