ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) (rs34159654)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669013 SCV000793708 likely pathogenic I cell disease; Pseudo-Hurler polydystrophy 2017-08-30 criteria provided, single submitter clinical testing
GeneReviews RCV000031965 SCV000054657 pathologic Mucopolysaccharidosis, MPS-III-A 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000002903 SCV000023061 pathogenic Pseudo-Hurler polydystrophy 2006-03-01 no assertion criteria provided literature only

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