ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.868T>A (p.Cys290Ser)

gnomAD frequency: 0.00001  dbSNP: rs1553277846
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669859 SCV000794651 uncertain significance Junctional epidermolysis bullosa gravis of Herlitz 2017-10-12 criteria provided, single submitter clinical testing

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