ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=)

gnomAD frequency: 0.00009  dbSNP: rs376294666
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000882333 SCV001025565 benign Methylmalonic acidemia with homocystinuria, type cblX 2024-11-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001817079 SCV002072417 benign not specified 2020-05-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940447 SCV004747112 benign HCFC1-related disorder 2019-07-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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