ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) (rs61753220)

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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 RCV000344101 SCV000338603 likely benign not specified 2016-01-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387310 SCV000463357 uncertain significance Peroxisome biogenesis disorder 4a (zellweger) 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000709968 SCV001026576 benign Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2019-12-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709968 SCV000840332 not provided Peroxisome biogenesis disorders, Zellweger syndrome spectrum no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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