ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.339G>A (p.Pro113=) (rs181743799)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176974 SCV000228769 uncertain significance not provided 2015-02-02 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000714993 SCV000845800 benign Biotinidase deficiency 2017-02-17 criteria provided, single submitter clinical testing Enzyme activity @ 2.9 U/L. Seen with c.1368A>C,p.Q456H.
Invitae RCV000176974 SCV001012589 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Invitae RCV000714993 SCV001593784 likely benign Biotinidase deficiency 2020-11-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000714993 SCV001460181 likely benign Biotinidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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