ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8007G>C (p.Gln2669His)

gnomAD frequency: 0.00007  dbSNP: rs369881673
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001366446 SCV001562748 benign not provided 2023-12-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278915 SCV001465961 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-07-02 no assertion criteria provided clinical testing

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