ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.1044C>T (p.Asp348=)

gnomAD frequency: 0.00252  dbSNP: rs111996979
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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) RCV000596553 SCV000701683 benign not specified 2016-09-29 criteria provided, single submitter clinical testing
Invitae RCV000903729 SCV001048209 benign not provided 2024-01-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001150043 SCV001311050 likely benign FLNB-Related Spectrum Disorders 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000903729 SCV002050150 benign not provided 2023-11-28 criteria provided, single submitter clinical testing

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