ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5199C>T (p.Asn1733=)

gnomAD frequency: 0.00001  dbSNP: rs782086308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318236 SCV000851517 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-01-26 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.
Invitae RCV001474561 SCV001678732 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-02-11 criteria provided, single submitter clinical testing
GeneDx RCV000872344 SCV001982349 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing

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