ClinVar Miner

Submissions for variant NM_020066.5(FMN2):c.1618C>T (p.Arg540Ter)

dbSNP: rs1247510585
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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 RCV001329728 SCV001521246 pathogenic Intellectual disability, autosomal recessive 47 2020-01-20 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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