ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser)

dbSNP: rs113993976
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 RCV000031853 SCV000033011 pathogenic Glycogen storage disease, type VI 1998-04-01 no assertion criteria provided literature only
GeneReviews RCV000031853 SCV000040938 not provided Glycogen storage disease, type VI no assertion provided literature only

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