ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2572_2573GA[1] (p.Asn859fs) (rs281865029)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671157 SCV000796107 pathogenic I cell disease; Pseudo-Hurler polydystrophy 2017-12-01 criteria provided, single submitter clinical testing
GeneReviews RCV000031974 SCV000054668 pathologic Pseudo-Hurler polydystrophy 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000031974 SCV000023055 pathogenic Pseudo-Hurler polydystrophy 2005-10-01 no assertion criteria provided literature only

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