ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) (rs121908687)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000006582 SCV000245524 pathogenic Parkinson disease 14 2014-09-11 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory homozygous in a 24-year-old male with adult-onset progressive lower limb weakness/stiffness, spastic gait, hyperthyroidism, diffuse brain atrophy, simialrly affected brother (not tested).
Fulgent Genetics,Fulgent Genetics RCV000763482 SCV000894265 likely pathogenic Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2b; Parkinson disease 14 2018-10-31 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268312 SCV001447145 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000006582 SCV000026765 pathogenic Parkinson disease 14 2009-02-01 no assertion criteria provided literature only

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