ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4636-9T>C

gnomAD frequency: 0.00002  dbSNP: rs760840151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000931562 SCV001077231 likely benign not provided 2023-11-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280115 SCV001467268 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-23 no assertion criteria provided clinical testing

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