ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.400-8dup (rs397514361)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research and Development, ARUP Laboratories RCV000021929 SCV000042598 benign Biotinidase deficiency 2017-02-17 criteria provided, single submitter clinical testing Enzyme activity @ 2.8 U/L with a paired control in the normal range.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178030 SCV000230004 uncertain significance not provided 2015-03-17 criteria provided, single submitter clinical testing

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