ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=)

gnomAD frequency: 0.00033  dbSNP: rs182074603
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723943 SCV000202728 uncertain significance not provided 2014-04-30 criteria provided, single submitter clinical testing
GeneDx RCV000723943 SCV000515702 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078871 SCV000639787 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316967 SCV000850312 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-11-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330511 SCV004039286 benign not specified 2023-08-24 criteria provided, single submitter clinical testing

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