ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714633 SCV000845346 uncertain significance Frontometaphyseal dysplasia 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714634 SCV000845347 uncertain significance FG syndrome 2 2018-08-07 criteria provided, single submitter clinical testing

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