ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2681G>A (p.Trp894Ter)

dbSNP: rs137852899
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 RCV000002895 SCV000023053 pathogenic Mucolipidosis type II 2005-10-01 no assertion criteria provided literature only
GeneReviews RCV000002895 SCV000055966 not provided Mucolipidosis type II no assertion provided literature only

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