ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1689A>G (p.Ser563=)

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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 RCV003013386 SCV003303616 likely benign Birt-Hogg-Dube syndrome 2022-12-09 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005248905 SCV005899472 benign Birt-Hogg-Dube syndrome 1 2024-10-28 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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