ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2064A>C (p.Thr688=)

dbSNP: rs2114240371
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001436195 SCV001639030 likely benign Peroxisome biogenesis disorder 2020-09-17 criteria provided, single submitter clinical testing

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