ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2375-7T>A (rs199673405)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188270 SCV000241880 uncertain significance not provided 2014-04-16 criteria provided, single submitter clinical testing The c.2495-7 T>A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. In silico analysis predicts this variant reduces the quality of the natural splice acceptor site in intron 13, which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies the actual effect of the c.2495-7 T>A sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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