ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.1107C>T (p.Asn369=)

gnomAD frequency: 0.00002  dbSNP: rs538953239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893530 SCV001037472 benign not provided 2024-01-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279615 SCV002566641 likely benign Connective tissue disorder 2021-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530984 SCV004745014 likely benign FLNB-related disorder 2019-05-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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