ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.610-1G>T

dbSNP: rs193302854
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000020923 SCV000023093 pathogenic GNPTG-mucolipidosis 2009-07-01 no assertion criteria provided literature only
GeneReviews RCV000020923 SCV000041532 pathologic GNPTG-mucolipidosis 2012-07-05 no assertion criteria provided curation Converted during submission to Pathogenic.

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