ClinVar Miner

Submissions for variant NM_003661.4(APOL1):c.1104T>G (p.Ala368=)

gnomAD frequency: 0.00001  dbSNP: rs1428826948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000785824 SCV000924396 risk factor Focal segmental glomerulosclerosis 4, susceptibility to 2015-02-27 criteria provided, single submitter clinical testing G1 (when found with c.1024A>G)
Labcorp Genetics (formerly Invitae), Labcorp RCV002068544 SCV002399866 likely benign not provided 2021-03-22 criteria provided, single submitter clinical testing

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