ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001415365 SCV001617524 likely benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280111 SCV001467264 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-18 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001415365 SCV001807461 likely benign not provided no assertion criteria provided clinical testing

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