ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.1215T>G (p.Val405=)

gnomAD frequency: 0.00050  dbSNP: rs41270545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000296587 SCV000341636 uncertain significance not provided 2016-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000296587 SCV001097913 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271950 SCV001453524 likely benign Leber congenital amaurosis 2020-09-16 no assertion criteria provided clinical testing

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