ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1383A>G (p.Val461=)

gnomAD frequency: 0.00385  dbSNP: rs112805032
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000970095 SCV001117655 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000970095 SCV005303324 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273340 SCV001456300 benign Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-16 no assertion criteria provided clinical testing

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