ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.1936G>C (p.Asp646His)

gnomAD frequency: 0.00003  dbSNP: rs765663530
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002069446 SCV002337629 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278975 SCV001466030 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-23 no assertion criteria provided clinical testing

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