ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.871+36G>A (rs3744124)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000121107 SCV000198122 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gly303Arg in exon 8A of FLCN: This variant is not expected to have clinical sign ificance because it has been identified in 13.1% (579/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs3744124).
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034795 SCV000043267 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000121107 SCV000085275 not provided not specified 2013-09-19 no assertion provided reference population

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