ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.186_189del (p.Phe62fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004596051 SCV005091056 likely pathogenic Nephronophthisis 4 2024-01-09 criteria provided, single submitter clinical testing PVS1, PM2 - The variant is expected to result in an absent or disrupted protein product. Low frequency in gnomAD population databases.

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