ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1128C>T (p.Leu376=)

dbSNP: rs758139797
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001437875 SCV001640740 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-05-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707600 SCV005225634 likely benign not provided criteria provided, single submitter not provided

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