Submissions for variant NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)

gnomAD frequency: 0.01036  dbSNP: rs34885143

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724323	SCV000227009	uncertain significance	not provided	2017-05-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000724323	SCV000238740	benign	not provided	2021-05-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26361991, 12359137, 27329734, 25087612, 21228398, 10400129, 15060693, 15776412, 11668630, 26810761, 16150625, 26990548, 27657684, 31664448)
Genetic Services Laboratory, University of Chicago	RCV000185799	SCV000246826	uncertain significance	not specified	2016-02-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000021888	SCV000630326	likely benign	Biotinidase deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Elsea Laboratory, Baylor College of Medicine	RCV000021888	SCV001424288	uncertain significance	Biotinidase deficiency	2020-04-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000021888	SCV001653479	likely benign	Biotinidase deficiency	2021-05-18	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000724323	SCV002047272	likely benign	not provided	2020-11-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000185799	SCV002103646	likely benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724323	SCV002496789	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	BTD: BP4, BS1, BS2
Molecular Genetics, Royal Melbourne Hospital	RCV000021888	SCV004812717	benign	Biotinidase deficiency	2023-05-04	criteria provided, single submitter	clinical testing	European Non-Finnish population allele frequency is 1.469% (rs34885143, 1052/69016 alleles, 11 homozygotes in gnomAD v3.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.4.0, this variant is classified as BENIGN. Following criteria are met: BA1
Natera, Inc.	RCV000021888	SCV001454448	benign	Biotinidase deficiency	2020-06-23	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003974849	SCV004796336	benign	BTD-related disorder	2024-01-03	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).