ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5425-6_5425-5del

dbSNP: rs762085901
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000943729 SCV001089682 likely benign not provided 2023-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000943729 SCV004154478 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280101 SCV001467254 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-22 no assertion criteria provided clinical testing

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