ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.780-6C>T

gnomAD frequency: 0.00001  dbSNP: rs752746072
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635593 SCV000757012 likely benign Birt-Hogg-Dube syndrome 2024-01-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257881 SCV002530156 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-25 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003965331 SCV004786060 likely benign FLCN-related condition 2022-02-25 criteria provided, single submitter 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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