ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.39C>T (p.Cys13=)

gnomAD frequency: 0.00005  dbSNP: rs201564216
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000021887 SCV001077164 likely benign Biotinidase deficiency 2024-11-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430639 SCV004149267 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing BTD: BP4, BP7

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