ClinVar Miner

Submissions for variant NM_000272.3(NPHP1):c.625-3dup

dbSNP: rs200118387
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490473 SCV000267420 uncertain significance Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2016-03-18 criteria provided, single submitter reference population
Eurofins Ntd Llc (ga) RCV000728486 SCV000856065 likely benign not specified 2017-08-07 criteria provided, single submitter clinical testing
Invitae RCV001521519 SCV001730879 benign Nephronophthisis 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952694 SCV004774945 benign NPHP1-related condition 2022-06-01 criteria provided, single submitter 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).
Molecular Diagnostics Laboratory, Seoul National University Hospital RCV000144477 SCV000189612 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing

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