ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1480-5C>T (rs376473597)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078567 SCV000110423 benign not specified 2016-10-24 criteria provided, single submitter clinical testing
Invitae RCV001079412 SCV001027635 benign Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000884269 SCV001144905 benign not provided 2019-07-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001158730 SCV001320384 likely benign Peroxisome biogenesis disorder 4a (zellweger) 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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