ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3821_3823GAG[1] (p.Gly1275del) (rs119456959)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002750 SCV000022908 pathogenic Nephronophthisis 3 2003-08-01 no assertion criteria provided literature only
GeneReviews RCV000234820 SCV000292009 pathogenic Nephronophthisis 2016-02-10 no assertion criteria provided literature only

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