ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)

gnomAD frequency: 0.00008  dbSNP: rs200327983
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000278976 SCV000332685 uncertain significance not provided 2015-07-17 criteria provided, single submitter clinical testing
Counsyl RCV000022033 SCV000800686 uncertain significance Biotinidase deficiency 2018-03-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000022033 SCV002782777 uncertain significance Biotinidase deficiency 2021-09-23 criteria provided, single submitter clinical testing

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