ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.107G>A (p.Arg36His)

dbSNP: rs142568031
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508479 SCV000603752 uncertain significance not specified 2016-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000888529 SCV001032171 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000888529 SCV001778310 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279289 SCV002566640 likely benign Connective tissue disorder 2019-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541582 SCV004766285 benign FLNB-related disorder 2020-03-12 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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