ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.-18A>T

dbSNP: rs143058480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411121 SCV000486812 likely pathogenic Biotinidase deficiency 2016-08-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411121 SCV004211440 uncertain significance Biotinidase deficiency 2025-01-18 criteria provided, single submitter clinical testing This variant, also known as NM_000060.4(BTD):c.43A>T (p.R15*), 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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