ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.114T>C (p.Tyr38=)

dbSNP: rs2125453888
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002159505 SCV002335109 likely benign Biotinidase deficiency 2022-07-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711742 SCV005264656 likely benign not provided criteria provided, single submitter not provided

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