ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter)

dbSNP: rs760612966
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667458 SCV000791907 pathogenic Biotinidase deficiency 2017-05-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003456422 SCV004185041 likely pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing BTD: PVS1:Strong, PM2, PM3:Supporting

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