ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.619-20C>T

gnomAD frequency: 0.00037  dbSNP: rs202217257
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253017 SCV000316057 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812046 SCV002048903 likely benign not provided 2021-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055543 SCV002434433 likely benign Birt-Hogg-Dube syndrome 2024-01-31 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000253017 SCV002551359 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505087 SCV002800336 likely benign Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2021-08-03 criteria provided, single submitter clinical testing

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