ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.3439_3442TTTG[1] (p.Val1148fs) (rs281865018)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665575 SCV000789721 pathogenic I cell disease; Pseudo-Hurler polydystrophy 2017-02-14 criteria provided, single submitter clinical testing
GeneReviews RCV000032340 SCV000055985 pathologic Pseudo-Hurler polydystrophy 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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