ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.396+7C>T

gnomAD frequency: 0.00006  dbSNP: rs781155484
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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 RCV000863041 SCV001003633 likely benign Birt-Hogg-Dube syndrome 2023-12-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495228 SCV002802633 likely benign Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2022-05-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736921 SCV004563321 likely benign not provided 2022-12-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938233 SCV004754391 likely benign FLCN-related disorder 2023-01-26 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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