ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.1273C>T (p.Arg425Ter)

dbSNP: rs782660172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania RCV003988687 SCV005081781 uncertain significance Cataract 1 multiple types 2023-01-21 criteria provided, single submitter curation Variant identified and curated during a GJA8 specific review of the literature in relation to pediatric or congenital cataract. ACMG-AMP criteria applied: PVS1(Moderate), PM2(Supporting), PP3. Original variant report: PMID:25148791. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003988687 SCV004804782 uncertain significance Cataract 1 multiple types 2024-03-17 criteria provided, single submitter research

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