ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.1649G>A (p.Arg550Gln)

gnomAD frequency: 0.00005  dbSNP: rs376051062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261645 SCV002541722 uncertain significance not provided 2021-07-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502073 SCV002814376 uncertain significance Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2B; Autosomal recessive Parkinson disease 14 2021-07-12 criteria provided, single submitter clinical testing

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