ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.2789C>T (p.Ala930Val)

gnomAD frequency: 0.00178  dbSNP: rs561402183
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912465 SCV001057573 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479056 SCV002802620 likely benign Ventriculomegaly-cystic kidney disease; Focal segmental glomerulosclerosis 9 2022-05-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000912465 SCV005320506 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004551794 SCV004750669 likely benign CRB2-related disorder 2020-10-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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