ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.201C>T (p.Asn67=) (rs147057169)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726430 SCV000344561 uncertain significance not provided 2016-09-08 criteria provided, single submitter clinical testing
Invitae RCV000633685 SCV000754952 likely benign Biotinidase deficiency 2017-08-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000266987 SCV000600940 uncertain significance not specified 2016-11-09 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000633685 SCV000845793 benign Biotinidase deficiency 2017-02-17 criteria provided, single submitter clinical testing Seen with c.895G>C,p.A299P and c.1330G>C,p.D444H.

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