ClinVar Miner

Submissions for variant NM_014625.4(NPHS2):c.874-11_874-10del

gnomAD frequency: 0.00005  dbSNP: rs774075788
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000326269 SCV000351499 uncertain significance Steroid-resistant nephrotic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001492620 SCV001697236 likely benign not provided 2024-12-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000326269 SCV001464471 uncertain significance Steroid-resistant nephrotic syndrome 2020-04-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003940095 SCV004753504 likely benign NPHS2-related disorder 2019-12-04 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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