ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.779+10G>A

gnomAD frequency: 0.00005  dbSNP: rs376357696
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250401 SCV000316059 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000462936 SCV000560330 likely benign Birt-Hogg-Dube syndrome 2025-01-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000250401 SCV000603721 likely benign not specified 2016-11-02 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004786637 SCV005404814 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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