ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter) (rs137852923)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003574 SCV000023732 pathogenic Senior-Loken syndrome 4 2002-11-01 no assertion criteria provided literature only
GeneReviews RCV000234826 SCV000292010 pathogenic Nephronophthisis 2016-02-10 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000735764 SCV000863923 pathogenic Nephronophthisis 4 2018-08-16 no assertion criteria provided clinical testing

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