ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1561G>A (p.Gly521Arg)

gnomAD frequency: 0.00001  dbSNP: rs1383489466
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690055 SCV005186121 uncertain significance not specified 2024-05-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278981 SCV001466036 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-11-05 no assertion criteria provided clinical testing

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