ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro)

dbSNP: rs1575031012
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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 RCV000998009 SCV001153817 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003444022 SCV004171065 likely pathogenic Biotinidase deficiency 2023-11-27 criteria provided, single submitter clinical testing

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