ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.5533G>A (p.Val1845Ile)

gnomAD frequency: 0.00001  dbSNP: rs575434109
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002025669 SCV002297171 likely benign not provided 2022-07-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276982 SCV002566691 likely benign Connective tissue disorder 2020-10-28 criteria provided, single submitter clinical testing

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