ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2587+28C>T

gnomAD frequency: 0.02616  dbSNP: rs76683871
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001717288 SCV001943586 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001717288 SCV005304462 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001832862 SCV002079284 benign Epidermolysis bullosa dystrophica 2019-10-17 no assertion criteria provided clinical testing

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