ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.546G>C (p.Gln182His) (rs1557179648)

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Total submissions: 6
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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 RCV000661984 SCV000784315 uncertain significance Cardiac valvular dysplasia, X-linked 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000661985 SCV000784316 uncertain significance FG syndrome 2 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000661986 SCV000784317 uncertain significance Frontometaphyseal dysplasia 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000661987 SCV000784318 uncertain significance Periventricular nodular heterotopia 1 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000661988 SCV000784319 uncertain significance Melnick-Needles syndrome 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000661989 SCV000784320 uncertain significance Terminal osseous dysplasia 2018-03-05 criteria provided, single submitter clinical testing

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