ClinVar Miner

Submissions for variant NM_014625.4(NPHS2):c.144C>T (p.Ser48=)

gnomAD frequency: 0.00031  dbSNP: rs111306764
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889017 SCV001032676 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501446 SCV002810121 likely benign Nephrotic syndrome, type 2 2021-08-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002501446 SCV004049299 likely benign Nephrotic syndrome, type 2 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000889017 SCV004123859 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing NPHS2: BP4, BP7
Natera, Inc. RCV001825794 SCV002090096 likely benign Steroid-resistant nephrotic syndrome 2020-02-24 no assertion criteria provided clinical testing

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