ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile)

gnomAD frequency: 0.00001  dbSNP: rs935130398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002266412 SCV002548372 uncertain significance not specified 2022-05-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134413 SCV003810671 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2022-03-11 criteria provided, single submitter clinical testing

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