ClinVar Miner

Submissions for variant NM_002024.6(FMR1):c.990+1G>A

dbSNP: rs886041089
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV000258904 SCV000328671 pathogenic Intellectual disability 2016-02-11 criteria provided, single submitter clinical testing

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