ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) (rs556510460)

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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 RCV000163762 SCV000214340 benign Hereditary cancer-predisposing syndrome 2019-07-16 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification;Other data supporting benign classification;Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Invitae RCV000543424 SCV000632836 likely benign Multiple fibrofolliculomas 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765335 SCV000896598 uncertain significance Multiple fibrofolliculomas; Pneumothorax, primary spontaneous; Potocki-Lupski syndrome; Carcinoma of colon; Renal cell carcinoma, nonpapillary 2018-10-31 criteria provided, single submitter clinical testing
ITMI RCV000121099 SCV000085267 not provided not specified 2013-09-19 no assertion provided reference population

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