ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1163T>C (p.Val388Ala)

dbSNP: rs1553654038
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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 RCV000513201 SCV000609097 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496976 SCV002813328 uncertain significance Biotinidase deficiency 2021-10-07 criteria provided, single submitter clinical testing

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