ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.1919C>T (p.Thr640Met)

gnomAD frequency: 0.00943  dbSNP: rs62621999
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000405532 SCV000445713 benign FLNB-Related Spectrum Disorders 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514173 SCV000609609 likely benign not provided 2017-03-20 criteria provided, single submitter clinical testing
GeneDx RCV000600234 SCV000714781 benign not specified 2017-03-09 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000514173 SCV000885483 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Invitae RCV000514173 SCV001092894 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278555 SCV002566651 likely benign Connective tissue disorder 2022-02-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502328 SCV002807032 likely benign Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 2022-05-18 criteria provided, single submitter clinical testing

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