ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1538+8A>G

gnomAD frequency: 0.00001  dbSNP: rs1471623826
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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 RCV001433584 SCV001636375 likely benign Birt-Hogg-Dube syndrome 2024-09-24 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005245992 SCV005899452 likely benign Birt-Hogg-Dube syndrome 1 2024-10-25 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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