ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.145_146insCTC (p.Glu48_Gln49insPro)

dbSNP: rs1651877337
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253057 SCV001428579 uncertain significance Cataract 1 multiple types 2017-10-05 criteria provided, single submitter clinical testing

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