ClinVar Miner

Submissions for variant NM_003105.6(SORL1):c.1749G>A (p.Val583=)

gnomAD frequency: 0.00051  dbSNP: rs146864372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002106380 SCV002434158 benign not provided 2023-10-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003971023 SCV004780506 likely benign SORL1-related disorder 2024-07-10 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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