Submissions for variant NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)

gnomAD frequency: 0.00094  dbSNP: rs199511876

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000424988	SCV000510567	benign	not provided	2016-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000424988	SCV000569171	likely benign	not provided	2018-06-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079029	SCV001024226	benign	Methylmalonic acidemia with homocystinuria, type cblX	2024-08-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001079029	SCV002805128	likely benign	Methylmalonic acidemia with homocystinuria, type cblX	2021-08-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000424988	SCV005206900	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000424988	SCV001743486	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000424988	SCV001968793	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950332	SCV004765924	likely benign	HCFC1-related disorder	2022-09-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).