ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2661C>T (p.Val887=)

gnomAD frequency: 0.00002  dbSNP: rs781794634
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697559 SCV000718541 likely benign not provided 2019-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431774 SCV002744119 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-05-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002531506 SCV003034256 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-08-12 criteria provided, single submitter clinical testing

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