ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) (rs34885143)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724323 SCV000227009 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000185799 SCV000238740 likely benign not specified 2017-11-03 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.
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 2018-01-02 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
Nilou-Genome Lab RCV000021888 SCV001653479 likely benign Biotinidase deficiency 2021-05-18 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021888 SCV000042556 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only
Natera, Inc. RCV000021888 SCV001454448 benign Biotinidase deficiency 2020-06-23 no assertion criteria provided clinical testing

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