ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=)

gnomAD frequency: 0.00006  dbSNP: rs201203814
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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 RCV002311224 SCV000320602 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-12-30 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.
GeneDx RCV001711766 SCV000729204 likely benign not provided 2020-08-04 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680534 SCV000807942 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000861820 SCV001002224 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-09-15 criteria provided, single submitter clinical testing

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