ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000762685 SCV000535589 likely benign not provided 2020-06-25 criteria provided, single submitter clinical testing
Invitae RCV000559847 SCV000639837 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-25 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760220 SCV000890050 uncertain significance Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 2017-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000762685 SCV000893020 uncertain significance not provided 2018-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000435841 SCV001160401 uncertain significance not specified 2019-04-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000762685 SCV001715432 uncertain significance not provided 2020-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393056 SCV002674415 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-08-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV000762685 SCV003832726 uncertain significance not provided 2019-10-15 criteria provided, single submitter clinical testing

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