ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1269C>T (p.His423=) (rs41464156)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130346 SCV000185197 likely benign Hereditary cancer-predisposing syndrome 2014-09-11 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.
Invitae RCV000230490 SCV000291428 benign Multiple fibrofolliculomas 2020-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000230490 SCV000400996 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.
Illumina Clinical Services Laboratory,Illumina RCV000308420 SCV000400997 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). 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 RCV000858339 SCV000724188 likely benign not provided 2020-10-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19562744, 19116017, 21937013, 29357828)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000858339 SCV001151232 likely benign not provided 2017-04-01 criteria provided, single submitter clinical testing

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