ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4635+5G>A

dbSNP: rs1170510858
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052136 SCV002318620 uncertain significance Recessive dystrophic epidermolysis bullosa 2022-03-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000040). In silico tools predict the variant to alter splicing and produce an abnormal transcript (SPLICEAI: 0.94>=0.8). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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