ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)

gnomAD frequency: 0.00003  dbSNP: rs397514427
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022022 SCV000795654 uncertain significance Biotinidase deficiency 2017-11-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000022022 SCV001781409 uncertain significance Biotinidase deficiency 2021-07-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV000022022 SCV004211406 likely pathogenic Biotinidase deficiency 2024-03-11 criteria provided, single submitter clinical testing

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