ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.994G>A (p.Glu332Lys)

gnomAD frequency: 0.00048  dbSNP: rs143688085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000347339 SCV000348155 uncertain significance Zonular Pulverulent Cataract 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390140 SCV000348156 uncertain significance Cataract 1 multiple types 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000390140 SCV001237223 likely benign Cataract 1 multiple types 2024-11-18 criteria provided, single submitter clinical testing

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