ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.3419-10A>T

gnomAD frequency: 0.00001  dbSNP: rs1448663798
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000924382 SCV001069895 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502812 SCV002806011 likely benign Epithelial recurrent erosion dystrophy; Epidermolysis bullosa, junctional 4, intermediate 2021-09-23 criteria provided, single submitter clinical testing

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