ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1539-11G>C

gnomAD frequency: 0.00001  dbSNP: rs368472222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002113524 SCV002404573 likely benign Birt-Hogg-Dube syndrome 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508001 SCV002799125 likely benign Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2021-09-06 criteria provided, single submitter clinical testing

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