ClinVar Miner

Submissions for variant NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr)

gnomAD frequency: 0.00001  dbSNP: rs786205550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171339 SCV000221536 likely pathogenic not provided criteria provided, single submitter research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000210435 SCV004805114 pathogenic Leber congenital amaurosis 16 2024-03-17 criteria provided, single submitter research
OMIM RCV000210435 SCV000266502 pathogenic Leber congenital amaurosis 16 2016-03-31 no assertion criteria provided literature only

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