ClinVar Miner

Submissions for variant NM_003105.6(SORL1):c.4213+5G>C

gnomAD frequency: 0.00161  dbSNP: rs199926915
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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 RCV000922253 SCV001067679 benign not provided 2024-08-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923288 SCV004746149 likely benign SORL1-related disorder 2020-06-17 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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