ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=)

gnomAD frequency: 0.00005  dbSNP: rs398123618
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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) RCV000079696 SCV000111579 uncertain significance not provided 2012-09-07 criteria provided, single submitter clinical testing
Invitae RCV002228211 SCV000639790 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-08-14 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680538 SCV000807948 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000079696 SCV001783327 likely benign not provided 2020-07-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326796 SCV002627779 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-10 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.

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