ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1551C>T (p.Thr517=)

gnomAD frequency: 0.00001  dbSNP: rs199556963
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 RCV001448494 SCV001651589 likely benign not provided 2024-03-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826270 SCV002079297 likely benign Epidermolysis bullosa dystrophica 2020-02-02 no assertion criteria provided clinical testing

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