ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.7024C>T (p.Gln2342Ter)

dbSNP: rs1583813573
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008706 SCV001168485 pathogenic not provided 2020-09-30 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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