ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.429C>T (p.Phe143=) (rs773792624)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635595 SCV000757014 likely benign Multiple fibrofolliculomas 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022236 SCV001183950 likely benign Hereditary cancer-predisposing syndrome 2019-02-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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