ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.1077del (p.Ile360fs)

dbSNP: rs398123037
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000049287 SCV001366549 pathogenic Perrault syndrome 4 2019-05-06 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5.
OMIM RCV000049287 SCV000077545 pathogenic Perrault syndrome 4 2013-04-04 no assertion criteria provided literature only
GeneReviews RCV002513679 SCV003525957 not provided Perrault syndrome no assertion provided literature only

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