ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=)

gnomAD frequency: 0.00009  dbSNP: rs191786597
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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 RCV002311145 SCV000320239 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-09-14 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 RCV000418632 SCV000520107 benign not provided 2021-08-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26582918)
Invitae RCV000867214 SCV001008414 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000418632 SCV002050219 likely benign not provided 2021-11-30 criteria provided, single submitter clinical testing

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