Submissions for variant NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)

gnomAD frequency: 0.00078  dbSNP: rs376049260

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194960	SCV000247549	uncertain significance	not specified	2014-09-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000194960	SCV000603950	likely benign	not specified	2016-11-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000194960	SCV000716651	likely benign	not specified	2017-03-14	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	RCV000638561	SCV000760088	benign	Methylmalonic acidemia with homocystinuria, type cblX	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947606	SCV004758707	likely benign	HCFC1-related condition	2019-02-28	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000194960	SCV001929518	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726038	SCV001964128	likely benign	not provided		no assertion criteria provided	clinical testing