ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.143_146dup (p.Ser50fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004576177 SCV005052050 likely pathogenic Biotinidase deficiency 2024-02-01 criteria provided, single submitter curation

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