Submissions for variant NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=)

gnomAD frequency: 0.00071  dbSNP: rs377035512

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000441870	SCV000521864	likely benign	not specified	2017-11-20	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	RCV001078679	SCV001107629	benign	Methylmalonic acidemia with homocystinuria, type cblX	2024-11-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000960626	SCV001150498	likely benign	not provided	2018-09-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000960626	SCV005206902	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000960626	SCV001931193	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000960626	SCV001975631	likely benign	not provided		no assertion criteria provided	clinical testing