ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.788G>T (p.Arg263Leu)

dbSNP: rs121908623
Minimum review status: Collection method:
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000006394 SCV002512302 likely pathogenic Sialuria 2021-06-23 criteria provided, single submitter clinical testing ACMG classification criteria: PS3 supporting, PS4 supporting, PM1 moderate, PM2 moderate, PP3 supporting
OMIM RCV000006394 SCV000026576 pathogenic Sialuria 1999-06-01 no assertion criteria provided literature only
GeneReviews RCV000006394 SCV000054605 not provided Sialuria no assertion provided literature only

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