ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.396+6C>T

gnomAD frequency: 0.00002  dbSNP: rs747922795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538911 SCV000632870 likely benign Birt-Hogg-Dube syndrome 2024-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483391 SCV002778635 uncertain significance Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2022-03-03 criteria provided, single submitter clinical testing

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