ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.1530-4del

dbSNP: rs757295724
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001413023 SCV001615125 likely benign Nephronophthisis 2024-06-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495305 SCV002802962 likely benign Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2022-05-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530819 SCV004738532 likely benign NPHP1-related disorder 2021-05-05 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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