ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.912_914del (p.Asp304del) (rs1557744230)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756549 SCV000884385 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing The p.Asp304del variant creates an in-frame deletion of aspartic acid 304. This variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. It is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD). Altogether, there is not enough evidence to classify the p.Asp304del variant with certainty.

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