ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2829C>T (p.Ser943=)

gnomAD frequency: 0.00001  dbSNP: rs180721913
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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 RCV002104123 SCV002440459 likely benign Nephronophthisis 2022-11-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025710 SCV005649303 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2024-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531442 SCV004714393 likely benign NPHP4-related disorder 2021-11-03 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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