ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.142G>A (p.Ala48Thr)

gnomAD frequency: 0.00143  dbSNP: rs200283870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000906594 SCV001051241 benign not provided 2024-07-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000906594 SCV004160693 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CRB2: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV004551758 SCV004783132 likely benign CRB2-related disorder 2020-03-25 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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