ClinVar Miner

Submissions for variant NM_014625.4(NPHS2):c.124G>A (p.Gly42Arg)

gnomAD frequency: 0.00365  dbSNP: rs559836164
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665608 SCV000789758 likely benign Nephrotic syndrome, type 2 2017-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000883029 SCV001026300 benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000665608 SCV004049302 likely benign Nephrotic syndrome, type 2 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277515 SCV001464475 uncertain significance Steroid-resistant nephrotic syndrome 2020-04-03 no assertion criteria provided clinical testing

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