ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.48C>T (p.Tyr16=)

gnomAD frequency: 0.00005  dbSNP: rs201823743
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000346716 SCV000441822 uncertain significance Biotinidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000346716 SCV001630595 likely benign Biotinidase deficiency 2025-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884503 SCV004700460 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing BTD: BP4, BP7
Natera, Inc. RCV000346716 SCV002081543 likely benign Biotinidase deficiency 2021-06-15 no assertion criteria provided clinical testing

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