ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.1465+48A>G

gnomAD frequency: 0.92652  dbSNP: rs805696
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001587995 SCV001821779 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001587996 SCV001821780 benign Epithelial recurrent erosion dystrophy 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001615346 SCV001835328 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615346 SCV005317109 benign not provided criteria provided, single submitter not provided

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