ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.38_44del (p.Cys13fs)

dbSNP: rs2471439040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV004810666 SCV005435077 pathogenic not provided 2024-11-01 criteria provided, single submitter clinical testing BTD: PVS1, PM2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003990234 SCV004806669 uncertain significance Biotinidase deficiency 2024-03-26 criteria provided, single submitter clinical testing

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