ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1456C>T (p.Leu486=)

gnomAD frequency: 0.00003  dbSNP: rs774018881
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
Invitae RCV000633684 SCV000754951 likely benign Biotinidase deficiency 2023-10-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002233958 SCV002511629 likely benign not specified 2022-04-27 criteria provided, single submitter clinical testing

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