ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.1203C>T (p.Thr401=)

gnomAD frequency: 0.00021  dbSNP: rs148507053
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001795680 SCV002418003 likely benign not provided 2023-12-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276897 SCV002566643 likely benign Connective tissue disorder 2021-05-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001795680 SCV002035247 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795680 SCV002038160 likely benign not provided no assertion criteria provided clinical testing

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