ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) (rs140769712)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000306069 SCV000463347 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598355 SCV000707155 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing
Invitae RCV000598355 SCV001037545 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing

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