ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.7272+1G>A

dbSNP: rs2107648492
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001594414 SCV001482417 pathogenic Recessive dystrophic epidermolysis bullosa criteria provided, single submitter clinical testing

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