ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.3474_3475del (p.His1158fs) (rs281865038)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000002894 SCV000054683 pathologic I cell disease 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000002894 SCV000023052 pathogenic I cell disease 2005-10-01 no assertion criteria provided literature only

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