ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.7336G>A (p.Gly2446Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283866 SCV002573017 uncertain significance Pretibial dystrophic epidermolysis bullosa 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.96; 3Cnet: 0.96). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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