ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) (rs140776870)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000596157 SCV000704076 benign not specified 2016-12-29 criteria provided, single submitter clinical testing
Invitae RCV000946599 SCV001092743 benign not provided 2020-11-17 criteria provided, single submitter clinical testing
Mendelics RCV000986608 SCV001135645 likely benign Retinitis pigmentosa 54 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001141532 SCV001301884 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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