ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.619-15C>T

gnomAD frequency: 0.00002  dbSNP: rs572284084
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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 RCV002120315 SCV002408099 likely benign Birt-Hogg-Dube syndrome 2024-07-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004793730 SCV005403550 benign Birt-Hogg-Dube syndrome 1 2024-09-04 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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