ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe)

gnomAD frequency: 0.00011  dbSNP: rs150381599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001410446 SCV001612493 likely benign PRPH2-related disorder 2024-09-11 criteria provided, single submitter clinical testing
GeneDx RCV001530383 SCV002818007 uncertain significance not provided 2022-12-21 criteria provided, single submitter clinical testing Identified in a patient with age-related macular degeneration in published literature, although additional clinical information and familial segregation data were not included (Peeters et al., 2021); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34411390)
Leiden Open Variation Database RCV001530383 SCV001745192 uncertain significance not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

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