ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1260C>T (p.Thr420=)

gnomAD frequency: 0.00001  dbSNP: rs1212593883
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001457527 SCV001661330 likely benign not provided 2023-05-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826283 SCV002079305 likely benign Epidermolysis bullosa dystrophica 2021-07-01 no assertion criteria provided clinical testing

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