ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.909C>T (p.Val303=)

gnomAD frequency: 0.00030  dbSNP: rs201488441
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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) RCV000728647 SCV000856247 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV001078850 SCV001010096 likely benign Nephronophthisis 2024-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965507 SCV004777530 likely benign NPHP4-related condition 2021-10-05 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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