ClinVar Miner

Submissions for variant NM_021954.4(GJA3):c.56C>T (p.Thr19Met)

dbSNP: rs1114167307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272192 SCV002556463 pathogenic Congenital cataracts-facial dysmorphism-neuropathy syndrome 2020-06-17 criteria provided, single submitter clinical testing The GJA3 c.56C>T variant is classified as Pathogenic (PS3, PM2, PP3, PP4, PP1_Strong)
Department of Ophthalmology, Flinders University RCV000490765 SCV000297746 pathogenic Developmental cataract 2016-07-29 no assertion criteria provided clinical testing
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania RCV000490765 SCV001573166 likely pathogenic Developmental cataract 2021-05-01 no assertion criteria provided research

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