ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)

gnomAD frequency: 0.00192  dbSNP: rs182248363
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152890 SCV000202314 likely benign not specified 2016-11-04 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625234 SCV000744247 likely benign Retinitis pigmentosa 54 2015-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000879053 SCV001022062 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000879053 SCV001152214 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing PCARE: BP4
Illumina Laboratory Services, Illumina RCV001136691 SCV001296550 uncertain significance Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Clinical Genetics, Academic Medical Center RCV000879053 SCV001919256 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003975196 SCV004798596 likely benign PCARE-related disorder 2019-08-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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