ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6217C>T (p.Arg2073Cys)

gnomAD frequency: 0.00003  dbSNP: rs782069230
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537698 SCV000639815 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314985 SCV000848362 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-06-17 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 RCV000826327 SCV000967911 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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