ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1032G>C (p.Leu344=)

dbSNP: rs946311662
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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 RCV000967743 SCV001115161 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836040 SCV002079308 likely benign Epidermolysis bullosa dystrophica 2020-10-06 no assertion criteria provided clinical testing

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