Submissions for variant NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=)

gnomAD frequency: 0.42119  dbSNP: rs3027875

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081294	SCV000113202	benign	not specified	2013-04-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000081294	SCV000517591	benign	not specified	2015-12-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514858	SCV001722809	benign	Methylmalonic acidemia with homocystinuria, type cblX	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001514858	SCV001934090	benign	Methylmalonic acidemia with homocystinuria, type cblX	2021-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004713244	SCV005275013	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000081294	SCV000151385	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.