ClinVar Miner

Submissions for variant NM_006915.3(RP2):c.416_417del (p.Ser139fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SingHealth Duke-NUS Institute of Precision Medicine RCV005235870 SCV005881543 likely pathogenic Retinitis pigmentosa 2 2025-02-05 criteria provided, single submitter clinical testing Variant is predicted to cause nonsense-mediated decay in a gene where LOF is a known cause of pathogenicity (PVS1). Variant is not found in gnomAD genomes and exomes (PM2).

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