ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3263C>T (p.Pro1088Leu)

dbSNP: rs529120446
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000975561 SCV001123447 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001580557 SCV001482415 likely pathogenic Recessive dystrophic epidermolysis bullosa criteria provided, single submitter clinical testing
Natera, Inc. RCV001827067 SCV002079268 benign Epidermolysis bullosa dystrophica 2020-07-27 no assertion criteria provided clinical testing

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