ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3158C>T (p.Ala1053Val)

gnomAD frequency: 0.00005  dbSNP: rs574853557
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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 RCV002537757 SCV003481694 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277646 SCV001464610 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-11-03 no assertion criteria provided clinical testing

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