Submissions for variant NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met)

gnomAD frequency: 0.00027  dbSNP: rs199798029

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000440143	SCV000522920	likely benign	not specified	2016-02-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000638565	SCV000760092	benign	Methylmalonic acidemia with homocystinuria, type cblX	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003959904	SCV004774774	benign	HCFC1-related condition	2019-12-16	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702453	SCV001932135	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000440143	SCV001966708	benign	not specified		no assertion criteria provided	clinical testing