ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.2619C>T (p.Asn873=) (rs2229745)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000020389 SCV000373455 benign Pyruvate carboxylase deficiency 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000020389 SCV001159075 benign Pyruvate carboxylase deficiency 2020-06-19 criteria provided, single submitter clinical testing
Invitae RCV000020389 SCV001717898 benign Pyruvate carboxylase deficiency 2020-12-06 criteria provided, single submitter clinical testing
GeneReviews RCV000020389 SCV000040782 benign Pyruvate carboxylase deficiency 2011-07-21 no assertion criteria provided curation Converted during submission to Benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000676958 SCV000802784 benign not provided 2016-02-24 no assertion criteria provided clinical testing

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