ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) (rs2274516)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249488 SCV000303465 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000534308 SCV000638110 benign Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2017-06-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000676090 SCV000843030 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676090 SCV000801828 benign not provided 2015-12-15 no assertion criteria provided clinical testing

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