ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1083T>C (p.Ser361=)

gnomAD frequency: 0.00004  dbSNP: rs781244729
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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) RCV000728780 SCV000856394 uncertain significance not provided 2017-08-15 criteria provided, single submitter clinical testing
Invitae RCV001517372 SCV001725855 benign Nephronophthisis 2022-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540040 SCV004788421 likely benign NPHP3-related disorder 2019-04-29 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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