ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1176+15T>C

gnomAD frequency: 0.00020  dbSNP: rs550870270
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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 RCV002078490 SCV002375154 benign Birt-Hogg-Dube syndrome 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486852 SCV002797489 likely benign Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2021-10-15 criteria provided, single submitter clinical testing

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