ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3126-12dup

dbSNP: rs398124547
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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 RCV000395874 SCV000441079 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000305784 SCV000441080 uncertain significance Renal-hepatic-pancreatic dysplasia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360483 SCV000441081 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957772 SCV004781243 likely benign NPHP3-related condition 2022-11-18 criteria provided, single submitter 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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