ClinVar Miner

Submissions for variant NM_005267.4(GJA8):c.741T>G (p.Ile247Met) (rs80358202)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000283119 SCV000348148 likely benign Zonular Pulverulent Cataract 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000009261 SCV000029479 pathogenic Cataract 1 2001-12-01 no assertion criteria provided literature only

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