ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3608del (p.Ala1203fs)

dbSNP: rs1060499938
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine Center, Medical University of Sofia RCV000456125 SCV000540924 pathogenic Nephronophthisis 3 2017-04-11 criteria provided, single submitter clinical testing Affected child inherited 3 deleterious mutations in two nephronophthisis genes, NPHP3 and NPHP4. Possibility for epistatic interaction of the NPHP mutations.

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