ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.279G>A (p.Pro93=)

gnomAD frequency: 0.00002  dbSNP: rs138688941
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575778 SCV000673421 likely benign Hereditary cancer-predisposing syndrome 2016-10-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000867885 SCV001009156 likely benign Birt-Hogg-Dube syndrome 2024-12-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478282 SCV004219718 benign not provided 2022-08-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005248296 SCV005896312 benign Birt-Hogg-Dube syndrome 1 2024-10-22 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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