ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) (rs34901902)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674766 SCV000800159 likely pathogenic I cell disease; Pseudo-Hurler polydystrophy 2018-05-23 criteria provided, single submitter clinical testing
GeneReviews RCV000031971 SCV000054665 pathologic Mucopolysaccharidosis, MPS-III-A 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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