ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter)

dbSNP: rs1783750860
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330611 SCV001522346 pathogenic Lafora disease 2020-02-28 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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