ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.1946G>A (p.Arg649Gln)

gnomAD frequency: 0.00006  dbSNP: rs145910735
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353068 SCV000342725 uncertain significance not provided 2016-06-23 criteria provided, single submitter clinical testing
Invitae RCV000353068 SCV001080736 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001148579 SCV001309485 benign FLNB-Related Spectrum Disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Ambry Genetics RCV002519308 SCV003676648 likely benign Inborn genetic diseases 2021-10-05 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.

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