ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1470C>T (p.Gly490=)

gnomAD frequency: 0.00265  dbSNP: rs35193230
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000398958 SCV000341392 uncertain significance not provided 2016-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083735 SCV001091331 benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000398958 SCV001861561 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271898 SCV001453392 benign Leber congenital amaurosis 2019-11-11 no assertion criteria provided clinical testing

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