ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.1609-41_1609-7del35ins35

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598653 SCV000710376 uncertain significance not specified 2018-01-04 criteria provided, single submitter clinical testing The c.1609-41_1609-7del35ins35 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). Multiple in-silico splice prediction models predict c.1609-41_1609-7del35ins35 destroys the natural splice acceptor site of intron 11, leading to abnormal gene splicing. However, in the absence of RNA/functional studies the actual effect of this variant on splicing in this individual is unknown.

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