ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1557179648
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Total submissions: 8
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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 1 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661987 SCV000784318 uncertain significance Heterotopia, periventricular, X-linked dominant 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-pigmentary defects syndrome 2018-03-05 criteria provided, single submitter clinical testing
GeneDx RCV001766436 SCV001989966 uncertain significance not provided 2019-05-21 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001766436 SCV004165133 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing FLNA: PP2

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