Submissions for variant NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=)

gnomAD frequency: 0.00101  dbSNP: rs185998087

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000423087	SCV000517932	benign	not specified	2016-06-12	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	RCV001088878	SCV001116905	benign	Methylmalonic acidemia with homocystinuria, type cblX	2024-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000969389	SCV001150505	likely benign	not provided	2018-04-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000969389	SCV005206906	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000423087	SCV001927239	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000423087	SCV001966288	benign	not specified		no assertion criteria provided	clinical testing