ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1002G>A (p.Thr334=)

gnomAD frequency: 0.00228  dbSNP: rs148764524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000369904 SCV000339771 likely benign not specified 2016-03-01 criteria provided, single submitter clinical testing
Invitae RCV000558183 SCV000630318 benign Biotinidase deficiency 2024-01-25 criteria provided, single submitter clinical testing

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