ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter)

dbSNP: rs373403222
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195792 SCV001366212 likely pathogenic Nephronophthisis 15 2019-01-22 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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