ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.1056-9C>T

gnomAD frequency: 0.00160  dbSNP: rs116758113
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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 RCV002064452 SCV002402658 benign Nephronophthisis-like nephropathy 1 2021-07-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294387 SCV002587543 uncertain significance Kidney disorder 2018-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002064452 SCV002813150 likely benign Nephronophthisis-like nephropathy 1 2021-08-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151160 SCV003839231 likely benign not specified 2022-09-13 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003938222 SCV004749646 likely benign XPNPEP3-related disorder 2019-02-21 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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