ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.252T>C (p.Asp84=)

gnomAD frequency: 0.00056  dbSNP: rs138545268
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000897832 SCV001042001 likely benign Biotinidase deficiency 2024-11-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000897832 SCV002048862 likely benign Biotinidase deficiency 2020-12-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711385 SCV005264657 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004751793 SCV005352723 likely benign BTD-related disorder 2024-08-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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