ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2064C>T (p.Ala688=)

dbSNP: rs782738252
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001417949 SCV001620163 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000920179 SCV001753012 likely benign not provided 2021-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416140 SCV002725625 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-02-15 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.
PreventionGenetics, part of Exact Sciences RCV003923272 SCV004745085 likely benign FLNA-related condition 2019-04-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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