Submissions for variant NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=)

gnomAD frequency: 0.16009  dbSNP: rs3027878

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000117217	SCV000517681	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514166	SCV001721947	benign	Methylmalonic acidemia with homocystinuria, type cblX	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001514166	SCV001934091	benign	Methylmalonic acidemia with homocystinuria, type cblX	2021-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004713287	SCV005275020	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117217	SCV000151384	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.