ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.278G>A (p.Arg93His)

gnomAD frequency: 0.00563  dbSNP: rs138381817
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893403 SCV001037335 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000893403 SCV001811702 likely benign not provided 2021-01-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818685 SCV002071534 benign not specified 2021-06-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000893403 SCV004032876 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing CRB2: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000893403 SCV005225510 likely benign not provided criteria provided, single submitter not provided

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