ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1498C>T (p.Gln500Ter)

dbSNP: rs1057519314
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000415706 SCV000494020 pathogenic Atypical glycine encephalopathy 2017-01-19 no assertion criteria provided literature only
GeneReviews RCV000415706 SCV000700324 not provided Atypical glycine encephalopathy no assertion provided literature only

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