ClinVar Miner

Submissions for variant NM_002024.6(FMR1):c.-128GGC[55_200]

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761550 SCV000891700 pathogenic Fragile X-associated tremor/ataxia syndrome 2017-12-30 criteria provided, single submitter clinical testing
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761551 SCV000891701 pathogenic Premature ovarian failure 1 2017-12-30 criteria provided, single submitter clinical testing

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