ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.2517G>A (p.Gln839=)

gnomAD frequency: 0.00005  dbSNP: rs141886345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294647 SCV002587366 uncertain significance Focal segmental glomerulosclerosis 2021-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003097857 SCV003519531 likely benign not provided 2024-10-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003896114 SCV004715360 likely benign NPHS1-related disorder 2020-10-14 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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