ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=)

gnomAD frequency: 0.00001  dbSNP: rs776433840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001478746 SCV001683022 likely benign not provided 2024-11-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279722 SCV001466841 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-05 no assertion criteria provided clinical testing

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