Submissions for variant NM_000254.3(MTR):c.3599-18C>T

gnomAD frequency: 0.00483  dbSNP: rs116444161

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443800	SCV000517811	benign	not specified	2016-08-09	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	RCV001523588	SCV001733316	benign	Methylcobalamin deficiency type cblG	2025-01-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001729586	SCV004563336	benign	not provided	2023-10-20	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001729586	SCV005280218	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001729586	SCV001978372	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000443800	SCV001979314	benign	not specified		no assertion criteria provided	clinical testing