ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu) (rs137852900)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000002905 SCV000055930 pathologic I cell disease 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000002904 SCV000023062 pathogenic Pseudo-Hurler polydystrophy 2009-03-01 no assertion criteria provided literature only
OMIM RCV000002905 SCV000023063 pathogenic I cell disease 2009-03-01 no assertion criteria provided literature only

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