ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)

gnomAD frequency: 0.00003  dbSNP: rs397514377
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000032022 SCV000267236 uncertain significance Biotinidase deficiency 2016-03-18 criteria provided, single submitter reference population
GeneDx RCV000520641 SCV000617652 uncertain significance not provided 2020-06-17 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26361991, 15776412)
Invitae RCV000032022 SCV000834107 uncertain significance Biotinidase deficiency 2021-08-24 criteria provided, single submitter clinical testing

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