ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4635+10G>A

gnomAD frequency: 0.00001  dbSNP: rs749722600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002069474 SCV002418546 likely benign not provided 2023-09-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280116 SCV001467269 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-07 no assertion criteria provided clinical testing

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