ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys)

dbSNP: rs864309643
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and RNA Biology, Humanitas University RCV000203255 SCV000238520 pathogenic Perrault syndrome 4 2015-05-18 criteria provided, single submitter research
OMIM RCV000203255 SCV000292567 pathogenic Perrault syndrome 4 2015-12-10 no assertion criteria provided literature only

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