ClinVar Miner

Submissions for variant NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val)

gnomAD frequency: 0.00042  dbSNP: rs375935118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597294 SCV000707398 uncertain significance not provided 2017-03-27 criteria provided, single submitter clinical testing
Invitae RCV001322808 SCV001513697 likely benign Deficiency of malonyl-CoA decarboxylase 2024-01-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001322808 SCV003808832 uncertain significance Deficiency of malonyl-CoA decarboxylase 2022-06-13 criteria provided, single submitter clinical testing

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