ClinVar Miner

Submissions for variant NM_014625.4(NPHS2):c.372C>T (p.Cys124=)

gnomAD frequency: 0.00006  dbSNP: rs139290621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000917848 SCV001063141 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294415 SCV002587308 uncertain significance Focal segmental glomerulosclerosis 2021-04-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832075 SCV002090094 likely benign Steroid-resistant nephrotic syndrome 2020-09-03 no assertion criteria provided clinical testing

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