ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1311G>A (p.Val437=)

gnomAD frequency: 0.00002  dbSNP: rs753880468
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 RCV002096461 SCV002395923 likely benign Biotinidase deficiency 2024-11-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002512174 SCV002821169 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing BTD: BP4, BP7

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