ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1464G>A (p.Ala488=) (rs747029882)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231403 SCV000291434 benign Multiple fibrofolliculomas 2020-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573319 SCV000673409 likely benign Hereditary cancer-predisposing syndrome 2015-07-03 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.
GeneDx RCV000609304 SCV000721574 likely benign not specified 2017-07-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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