ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp)

gnomAD frequency: 0.00688  dbSNP: rs145286619
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000952941 SCV001099480 benign not provided 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000952941 SCV001818915 likely benign not provided 2021-03-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26795916)
Genetic Services Laboratory, University of Chicago RCV001818982 SCV002071536 benign not specified 2018-04-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505419 SCV002808133 likely benign Ventriculomegaly-cystic kidney disease; Focal segmental glomerulosclerosis 9 2022-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000952941 SCV004699468 benign not provided 2024-06-01 criteria provided, single submitter clinical testing CRB2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000952941 SCV005227449 likely benign not provided criteria provided, single submitter not provided

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