ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)

dbSNP: rs1050035768
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985098 SCV001133065 likely pathogenic Biotinidase deficiency 2019-09-26 no assertion criteria provided clinical testing

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