ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1071A>G (p.Leu357=) (rs116318004)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078565 SCV000110421 benign not specified 2013-08-01 criteria provided, single submitter clinical testing
Invitae RCV000974753 SCV001122609 benign Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001160094 SCV001321863 benign Peroxisome biogenesis disorder 4a (zellweger) 2017-05-16 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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