ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=)

gnomAD frequency: 0.00003  dbSNP: rs748854889
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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 RCV001498607 SCV001703358 likely benign not provided 2024-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277579 SCV001464539 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-19 no assertion criteria provided clinical testing

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