ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.397-14C>T (rs1736219)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082638 SCV000114680 benign not specified 2017-04-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353310 SCV000401021 benign Spontaneous pneumothorax 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277303 SCV000401022 benign Multiple fibrofolliculomas 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589883 SCV000699933 benign not provided 2016-05-04 criteria provided, single submitter clinical testing Variant summary: The FLCN variant, c.397-14C>T is located at a non-conserved intronic position, not widely known to affect splicing, with 5/5 in silico programs via Alamut predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest is observed in the large, broad control population, ExAC, with an allele frequency of 20124/41572 (1/2 including 4822 homozygotes), which significantly exceeds the estimated maximum expected allele frequency for a pathogenic FLCN variant of 1/769230. The variant of interest has also been reported by multiple reputable clinical laboratories as "benign." Therefore, the variant of interest has been classified as Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000082638 SCV000198125 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 397-14C>T in intron 5 of FLCN: This variant is not expected to have clinical sig nificance because it has been identified in 48.5% (4163/8588) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs1736219).
PreventionGenetics RCV000082638 SCV000316056 benign not specified criteria provided, single submitter clinical testing

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