ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=)

gnomAD frequency: 0.00004  dbSNP: rs548139799
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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 RCV001404699 SCV001606607 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277644 SCV001464608 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-21 no assertion criteria provided clinical testing

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