ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)

gnomAD frequency: 0.00010  dbSNP: rs782727601
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190805 SCV000244246 uncertain significance Inborn genetic diseases 2014-03-24 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Genetic Services Laboratory, University of Chicago RCV001818463 SCV002068857 benign not specified 2018-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001814098 SCV002354467 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-01-29 criteria provided, single submitter clinical testing
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital RCV001814098 SCV002060999 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX no assertion criteria provided case-control

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