ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg)

gnomAD frequency: 0.00048  dbSNP: rs141698427
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731237 SCV000566423 uncertain significance not provided 2024-04-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Eurofins Ntd Llc (ga) RCV000731237 SCV000859028 uncertain significance not provided 2018-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000731237 SCV001066232 likely benign not provided 2023-10-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279237 SCV002566696 likely benign Connective tissue disorder 2020-11-24 criteria provided, single submitter clinical testing

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