ClinVar Miner

Submissions for variant NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) (rs724160001)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675089 SCV000800607 uncertain significance Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2017-10-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728635 SCV000856235 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
OMIM RCV000149811 SCV000196635 pathogenic Peroxisome biogenesis disorder 6B 2010-08-01 no assertion criteria provided literature only

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