ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.903_906del (p.Ser301fs)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074073 SCV001239642 likely pathogenic Retinal dystrophy 2018-12-13 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV001250361 SCV001424689 likely pathogenic Patterned dystrophy of the retinal pigment epithelium 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.903_906del in the PRPH2 gene has not been reported to our knowledge . We found this variant in 3 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is not listed in dbSNP and/or HGMD. It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PS4, PM2] and classified NM_000322.4:c.903_906del in the PRPH2 gene as a Likely Pathogenic mutation.
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV001250362 SCV001424690 likely pathogenic Vitelliform macular dystrophy type 2 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.903_906del in the PRPH2 gene has not been reported to our knowledge . We found this variant in 3 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is not listed in dbSNP and/or HGMD. It is absent in gnomAD browser. It is enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PS4, PM2] and classified NM_000322.4:c.903_906del in the PRPH2 gene as a Likely Pathogenic mutation.
Leiden Open Variation Database RCV001530334 SCV001745121 pathogenic 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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