ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.339G>A (p.Pro113=)

gnomAD frequency: 0.00133  dbSNP: rs181743799
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176974 SCV000228769 uncertain significance not provided 2015-02-02 criteria provided, single submitter clinical testing
Invitae RCV000714993 SCV001593784 likely benign Biotinidase deficiency 2022-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000714993 SCV001460181 likely benign Biotinidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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