ClinVar Miner

Submissions for variant NM_020066.5(FMN2):c.2240C>T (p.Ser747Phe)

gnomAD frequency: 0.00001  dbSNP: rs776610158
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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 RCV001335951 SCV001529216 uncertain significance Intellectual disability, autosomal recessive 47 2018-12-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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