ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6045G>A (p.Gly2015=)

gnomAD frequency: 0.00002  dbSNP: rs934784670
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002069468 SCV002368075 likely benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279712 SCV001466831 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-28 no assertion criteria provided clinical testing

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