ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=)

gnomAD frequency: 0.00020  dbSNP: rs188431787
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594676 SCV000702232 uncertain significance not provided 2017-12-14 criteria provided, single submitter clinical testing
Invitae RCV001436666 SCV001639509 likely benign Nephronophthisis 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530663 SCV004715020 likely benign NPHP3-related disorder 2021-04-14 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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