ClinVar Miner

Submissions for variant NM_198129.3(LAMA3):c.8436+1G>A (rs886039412)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255139 SCV000321860 pathogenic not provided 2018-07-16 criteria provided, single submitter clinical testing The c.3609+1 G>A splice site variant in the LAMA3 gene has been previously reported in association with JEB (Teebi et al., 2010) and has been observed in the homozygous state in patients referred to GeneDx for testing. This variant destroys the canonical splice donor site in intron 27 and is expected to cause abnormal gene splicing. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.

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