ClinVar Miner

Submissions for variant NM_014625.4(NPHS2):c.182C>T (p.Ala61Val)

gnomAD frequency: 0.00575  dbSNP: rs201050491
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517708 SCV000614344 likely benign not specified 2016-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000888629 SCV001032276 benign not provided 2025-01-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343885 SCV004049297 likely benign Nephrotic syndrome, type 2 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000888629 SCV005258147 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000517708 SCV001926574 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000888629 SCV001957195 likely benign not provided no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV000517708 SCV003839787 benign not specified 2022-06-13 no assertion criteria provided clinical testing

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