ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001436449 SCV001639291 likely benign not provided 2020-11-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277636 SCV001464600 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-18 no assertion criteria provided clinical testing

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