ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1538+2T>C

dbSNP: rs2144831005
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001533142 SCV001748961 likely pathogenic Birt-Hogg-Dube syndrome 2021-06-04 criteria provided, single submitter clinical testing

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