ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) (rs397514380)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185805 SCV000238747 pathogenic not provided 2016-01-19 criteria provided, single submitter clinical testing The D228Y missense mutation in the BTD gene has been reported previously in association with biotinidase deficiency (Swango et al., 1998; ARUP BTD mutation database). Furthermore, another missense mutation at this position (D228G) and missense mutations in nearby residues (D222G, T234I) have been reported in association with biotinidase deficiency.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000185805 SCV000855891 uncertain significance not provided 2017-08-02 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021957 SCV000042626 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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