ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.762_763delinsTT (p.His255Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003334782 SCV004043954 likely pathogenic Birt-Hogg-Dube syndrome 2023-06-29 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 28007907]. This variant is expected to disrupt protein structure [Myriad internal data]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID:34604083, 28007907].

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