ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.40_41del (p.Gly14fs) (rs765906887)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987127 SCV001136334 pathogenic Biotinidase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415039 SCV000492533 uncertain significance Cryptorchidism; Global developmental delay; Macrocephalus; Generalized hypotonia 2016-06-05 no assertion criteria provided clinical testing

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