ClinVar Miner

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

gnomAD frequency: 0.01036  dbSNP: rs34885143
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Total submissions: 11
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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
Invitae 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 2024-01-01 criteria provided, single submitter clinical testing BTD: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003974849 SCV004796336 benign BTD-related condition 2024-01-03 criteria provided, single submitter 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).
Natera, Inc. RCV000021888 SCV001454448 benign Biotinidase deficiency 2020-06-23 no assertion criteria provided clinical testing

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