ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.1015G>A (p.Ala339Thr)

gnomAD frequency: 0.00018  dbSNP: rs760687443
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228253 SCV001400643 likely benign PRPH2-related disorder 2024-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887925 SCV004707317 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001530265 SCV005188974 uncertain significance not provided criteria provided, single submitter not provided
Leiden Open Variation Database RCV001530265 SCV001745017 uncertain significance not provided 2019-07-24 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Yoshito Koyanagi.

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