ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)

dbSNP: rs758914061
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762526 SCV000892853 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000762526 SCV001419907 likely benign not provided 2024-10-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559264 SCV001781440 uncertain significance Achromatopsia 3 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825510 SCV002075548 uncertain significance Achromatopsia 2019-10-28 no assertion criteria provided clinical testing

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