ClinVar Miner

Submissions for variant NM_003105.6(SORL1):c.3346A>G (p.Ile1116Val)

gnomAD frequency: 0.00569  dbSNP: rs62617129
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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 RCV001516640 SCV001724947 benign not provided 2023-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001516640 SCV004129526 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SORL1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001516640 SCV005235325 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980548 SCV004793536 benign SORL1-related disorder 2023-11-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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