ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.330C>G (p.Thr110=) (rs140486558)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078575 SCV000110431 benign not specified 2013-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001163757 SCV001325827 likely benign Peroxisome biogenesis disorder 4a (zellweger) 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics Inc RCV000078575 SCV001476736 benign not specified 2019-12-05 criteria provided, single submitter clinical testing
Invitae RCV001512225 SCV001719603 benign Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000676099 SCV001813869 likely benign not provided 2021-03-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676099 SCV000801841 likely benign not provided 2017-10-03 no assertion criteria provided clinical testing

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