ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp)

gnomAD frequency: 0.00985  dbSNP: rs113974315
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200020 SCV000251659 benign not specified 2014-06-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV000290393 SCV000430600 benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513888 SCV000610161 benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Invitae RCV000513888 SCV001092750 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000290393 SCV001462532 benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-09-16 no assertion criteria provided clinical testing

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