ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3750T>C (p.Tyr1250=)

gnomAD frequency: 0.00001  dbSNP: rs558659528
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000930771 SCV001076428 likely benign not provided 2024-10-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272616 SCV001454726 uncertain significance Epidermolysis bullosa dystrophica 2020-01-24 no assertion criteria provided clinical testing

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