ClinVar Miner

Submissions for variant NM_020066.5(FMN2):c.3560C>T (p.Pro1187Leu)

gnomAD frequency: 0.00006  dbSNP: rs372947608
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001263260 SCV001441297 uncertain significance Intellectual disability 2020-01-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003492237 SCV004234832 uncertain significance Intellectual disability, autosomal recessive 47 2024-01-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691401 SCV005186393 uncertain significance not provided criteria provided, single submitter not provided

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