ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1086G>A (p.Glu362=)

dbSNP: rs1559600186
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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 RCV001426380 SCV001629031 likely benign Biotinidase deficiency 2020-08-07 criteria provided, single submitter clinical testing

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