ClinVar Miner

Submissions for variant NM_000272.3(NPHP1):c.625-3dup (rs200118387)

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Total submissions: 3
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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 4; Nephronophthisis 1; Senior-Loken syndrome 1 2016-03-18 criteria provided, single submitter reference population
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728486 SCV000856065 likely benign not specified 2017-08-07 criteria provided, single submitter clinical testing
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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