ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)

gnomAD frequency: 0.00019  dbSNP: rs142857810
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000488061 SCV000232366 uncertain significance not provided 2014-12-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000488061 SCV000574803 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001087243 SCV001107782 benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-28 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376275 SCV001573358 likely benign Retinitis pigmentosa 12 2021-04-08 criteria provided, single submitter research The CRB1 c.2462C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: BP4, BS2, PM1, PM3. Based on this evidence we have classified this variant as Likely Benign.
Genome-Nilou Lab RCV001563786 SCV001786813 uncertain significance Leber congenital amaurosis 8 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001376275 SCV001786814 uncertain significance Retinitis pigmentosa 12 2021-07-14 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888637 SCV004706130 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Clinical Genetics, Academic Medical Center RCV000488061 SCV001919566 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000488061 SCV001957647 uncertain significance not provided no assertion criteria provided clinical testing

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