Submissions for variant NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=)

gnomAD frequency: 0.19260  dbSNP: rs2071133

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081293	SCV000113201	benign	not specified	2016-03-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000081293	SCV000517680	benign	not specified	2015-12-02	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	RCV001514167	SCV001721948	benign	Methylmalonic acidemia with homocystinuria, type cblX	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001514167	SCV001934092	benign	Methylmalonic acidemia with homocystinuria, type cblX	2021-08-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081293	SCV000151383	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.