ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.-24A>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474469 SCV004211481 uncertain significance Biotinidase deficiency 2025-01-18 criteria provided, single submitter clinical testing This variant, also known as NM_000060.4(BTD):c.37A>T (p.K13*), is located within the coding region of a minor isoform but is not within the coding region of the MANE isoform NM_001370658.1. The functional consequence is uncertain.

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