ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.789G>A (p.Glu263=)

gnomAD frequency: 0.00001  dbSNP: rs2065643507
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001496840 SCV001701553 likely benign Biotinidase deficiency 2019-05-29 criteria provided, single submitter clinical testing

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