ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3673G>C (p.Ala1225Pro)

gnomAD frequency: 0.00001  dbSNP: rs199679997
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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 RCV001348797 SCV001543114 likely benign not provided 2024-07-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825948 SCV002079263 uncertain significance Epidermolysis bullosa dystrophica 2020-06-10 no assertion criteria provided clinical testing

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