ClinVar Miner

Submissions for variant NM_002024.6(FMR1):c.1268_1269del (p.Tyr423fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287600 SCV002577695 likely pathogenic Fragile X syndrome 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM2_supporting

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