ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.959G>A (p.Arg320Gln) (rs143483053)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163434 SCV000213980 likely benign Hereditary cancer-predisposing syndrome 2018-12-26 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);In silico models in agreement (benign);Other data supporting benign classification
Invitae RCV000226709 SCV000291455 benign Multiple fibrofolliculomas 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374324 SCV000401004 likely benign Pneumothorax, primary spontaneous 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000226709 SCV000401005 likely benign Multiple fibrofolliculomas 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000034797 SCV000724487 likely benign not provided 2021-08-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28873162, 24728327, 22703879, 14627671, 27146957, 20522427, 21794948)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034797 SCV000043265 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000121114 SCV000085282 not provided not specified 2013-09-19 no assertion provided reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000034797 SCV001809541 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000034797 SCV001953426 likely benign not provided no assertion criteria provided clinical testing

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