ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2533C>T (p.Gln845Ter)

dbSNP: rs281865028
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000031973 SCV000054667 pathologic Mucolipidosis type II 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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