ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.616A>G (p.Lys206Glu)

gnomAD frequency: 0.00002  dbSNP: rs1003975438
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001280042 SCV001467188 uncertain significance Biotinidase deficiency 2020-09-04 no assertion criteria provided clinical testing

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