ClinVar Miner

Submissions for variant NM_000272.3(NPHP1):c.(?_-1)_(*1_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000210537 SCV000266809 pathogenic Nephronophthisis 2015-07-16 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the NPHP1 gene has been identified. This deletion extends to both edges of the assayed region, and the 5' and 3' boundaries of this event are not known. This variant was reported to segregate with Nephronophthisis in 15 families (PMID: 8852662) and has also been shown to segregate in one family with mild Joubert syndrome (PMID: 15138899). For these reasons, this variant has been classified as Pathogenic.

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