ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter) (rs777103184)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000735858 SCV000863541 pathogenic Retinitis pigmentosa 54 2018-12-06 no assertion criteria provided clinical testing The observed variant NM_001029883:c.1191G>A (p. Trp397Ter) has not been reported in 1000 genomes and has a minor allele frequency of 0.001% in the ExAC database. The in-silico prediction of the variant is damaging by MutationTaster2.

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