ClinVar Miner

Submissions for variant NC_000003.12:g.48584060del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV001261560 SCV001438825 likely pathogenic Recessive dystrophic epidermolysis bullosa criteria provided, single submitter clinical testing

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