ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1357C>T (p.Leu453=)

gnomAD frequency: 0.00002  dbSNP: rs535110862
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729265 SCV000856912 uncertain significance not provided 2018-07-30 criteria provided, single submitter clinical testing
Invitae RCV001513291 SCV001720884 benign Nephronophthisis 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000729265 SCV004155569 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing NPHP3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004540043 SCV004786140 likely benign NPHP3-related disorder 2023-05-08 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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