ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=)

dbSNP: rs144850331
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001089361 SCV000260194 likely benign Nephronophthisis 2025-01-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000406042 SCV000336019 uncertain significance not provided 2018-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000406042 SCV001819502 likely benign not provided 2019-10-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541288 SCV004768849 likely benign NPHP1-related disorder 2021-02-16 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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