ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3697-7del

dbSNP: rs564013823
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755725 SCV000572095 benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000525368 SCV000636163 benign Nephronophthisis 2025-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535526 SCV004743486 benign NPHP3-related disorder 2019-05-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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