ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.2398+19G>A

gnomAD frequency: 0.43385  dbSNP: rs813944
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241821 SCV000304517 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001589236 SCV001821774 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001589237 SCV001821775 benign Epithelial recurrent erosion dystrophy 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001711538 SCV001939471 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001711538 SCV002425485 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711538 SCV005322475 benign not provided criteria provided, single submitter not provided

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