ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.621A>G (p.Val207=)

gnomAD frequency: 0.00015  dbSNP: rs139693694
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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 RCV000556132 SCV000636168 likely benign Nephronophthisis 2024-10-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000592903 SCV000707937 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537953 SCV004735139 likely benign NPHP3-related disorder 2021-09-23 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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