ClinVar Miner

Submissions for variant NM_003661.4(APOL1):c.318T>C (p.Asn106=)

gnomAD frequency: 0.00069  dbSNP: rs141898256
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002503180 SCV002807133 likely benign Focal segmental glomerulosclerosis 4, susceptibility to 2021-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001730254 SCV003277995 likely benign not provided 2024-06-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001730254 SCV001978227 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730254 SCV001980163 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003968523 SCV004778565 likely benign APOL1-related disorder 2023-02-22 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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