ClinVar Miner

Submissions for variant NC_000003.12:g.48595347G>A

dbSNP: rs2046013117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002282514 SCV002571343 pathogenic not provided 2022-03-10 criteria provided, single submitter clinical testing Promoter variant in a gene for which loss-of-function is a known mechanism of disease; transcript analysis supports that this variant abolishes transcription by disrupting the binding site for the Sp1 transcription factor consistent with a null allele (Gardella et al., 2000); No data available from control populations to assess the frequency of this variant; This variant is associated with the following publications: (PMID: 10980546)
Biomedical Innovation Departament, CIEMAT RCV001310293 SCV001500028 pathogenic Epidermolysis bullosa dystrophica 2018-11-22 no assertion criteria provided research

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