ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1300+2T>G (rs1064793766)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479064 SCV000566978 pathogenic not provided 2015-06-19 criteria provided, single submitter clinical testing The c.1300+2 T>G splice site variant in the FLCN gene destroys the canonical splicedonor site in intron 11. It is predicted to cause abnormal gene splicing, either leading to anabnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormalprotein product if the message is used for protein translation. Although this variant hasnot been previously reported to our knowledge, we consider it to be pathogenic.

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