ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.430A>C (p.Arg144=)

gnomAD frequency: 0.00023  dbSNP: rs556096072
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001488468 SCV001692986 likely benign Biotinidase deficiency 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001488468 SCV002081552 likely benign Biotinidase deficiency 2021-02-24 no assertion criteria provided clinical testing

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