ClinVar Miner

Submissions for variant NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer)

dbSNP: rs1561480377
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Raphael Recanati Genetics Institute, Rabin Medical Center RCV000754791 SCV000882673 uncertain significance Retinitis pigmentosa 2018-09-13 no assertion criteria provided clinical testing
OMIM RCV000754800 SCV000882685 uncertain significance not provided 2019-02-04 no assertion criteria provided literature only
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003123 SCV001161192 pathogenic Syndromic retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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