ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1538+10A>C

gnomAD frequency: 0.00010  dbSNP: rs12451312
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552576 SCV000632851 benign Birt-Hogg-Dube syndrome 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002231368 SCV002511967 benign not specified 2022-04-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497103 SCV002810224 benign Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2021-08-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942770 SCV004761646 benign FLCN-related condition 2019-11-12 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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