ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.1096G>A (p.Val366Met)

gnomAD frequency: 0.00004  dbSNP: rs782056871
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000277824 SCV000348159 uncertain significance Zonular Pulverulent Cataract 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297813 SCV000348160 uncertain significance Cataract 1 multiple types 2016-06-14 criteria provided, single submitter clinical testing

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