ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.346del (p.Gln116fs)

dbSNP: rs1404904752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474465 SCV004211464 pathogenic Biotinidase deficiency 2023-04-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003474465 SCV005660267 likely pathogenic Biotinidase deficiency 2023-12-28 criteria provided, single submitter clinical testing

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