ClinVar Miner

Submissions for variant NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del)

dbSNP: rs145776307
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350334 SCV000446923 uncertain significance Congenital Stationary Night Blindness, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729978 SCV000857681 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729978 SCV001721268 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000729978 SCV004148688 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing LRIT3: BS2

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