ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4666A>G (p.Lys1556Glu)

gnomAD frequency: 0.00006  dbSNP: rs777472432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002537872 SCV003254805 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280112 SCV001467265 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-08-26 no assertion criteria provided clinical testing

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