ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1614C>T (p.Ile538=)

dbSNP: rs1597574133
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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 RCV001467616 SCV001671643 likely benign Birt-Hogg-Dube syndrome 2024-10-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005249363 SCV005895337 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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