ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.6C>G (p.Ala2=)

gnomAD frequency: 0.00523  dbSNP: rs112471479
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000370857 SCV000336900 benign not specified 2015-10-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280964 SCV000355620 likely benign Peroxisome biogenesis disorder 6A (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 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522932 SCV001732570 benign Peroxisome biogenesis disorder, complementation group 7 2025-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000280964 SCV001737177 likely benign Peroxisome biogenesis disorder 6A (Zellweger) 2021-05-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676048 SCV003916033 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing PEX10: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000676048 SCV005259262 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676048 SCV000801782 likely benign not provided 2015-12-16 no assertion criteria provided clinical testing
Natera, Inc. RCV001828198 SCV002094149 benign Zellweger spectrum disorders 2019-11-22 no assertion criteria provided clinical testing

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