ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) (rs61755801)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987696 SCV001137115 pathogenic Macular dystrophy, patterned, 1 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075498 SCV001241122 likely pathogenic Retinal dystrophy 2018-11-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085001 SCV001249903 likely pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV001250290 SCV001424603 likely pathogenic Vitelliform macular dystrophy type 2 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.635G>C in the PRPH2 gene has been previously studied(PMIDs 9338584, 25082885, 26796962). We found this variant in 1 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755801,CM971289). It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PM2, PM1, PM5, PP3] and classified NM_000322.4:c.635G>C in the PRPH2 gene as a Likely Pathogenic mutation.
Retina International RCV000085001 SCV000117137 not provided not provided no assertion provided not provided
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003143 SCV001161212 likely pathogenic Adult onset vitelliform dystrophy 2019-06-23 no assertion criteria provided research
Leiden Open Variation Database RCV000085001 SCV001745095 likely pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Global Variome, with Curator vacancy, Manon Peeters.

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