ClinVar Miner

Submissions for variant NM_020066.5(FMN2):c.3131C>T (p.Pro1044Leu)

dbSNP: rs202165125
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335954 SCV001529219 uncertain significance Intellectual disability, autosomal recessive 47 2018-01-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV003416226 SCV004127376 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing

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