Submissions for variant NM_001370658.1(BTD):c.1041C>T (p.Gly347=)

gnomAD frequency: 0.00086  dbSNP: rs142421934

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000371736	SCV000334665	benign	not specified	2015-08-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000352964	SCV000441828	uncertain significance	Biotinidase deficiency	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000371736	SCV000518360	likely benign	not specified	2015-08-10	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	RCV000352964	SCV000630319	benign	Biotinidase deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000371736	SCV001470279	benign	not specified	2020-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000352964	SCV001653439	likely benign	Biotinidase deficiency	2021-05-18	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000352964	SCV002081568	benign	Biotinidase deficiency	2019-10-21	no assertion criteria provided	clinical testing