ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7305C>T (p.Tyr2435=)

gnomAD frequency: 0.00012  dbSNP: rs782750091
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311129 SCV000320156 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-09-06 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.
GeneDx RCV001705396 SCV000513062 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
Invitae RCV000640805 SCV000762404 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820796 SCV002066096 likely benign not specified 2018-06-05 criteria provided, single submitter clinical testing

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