ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3570-3C>T (rs35113761)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126664 SCV000170173 benign not specified 2012-08-03 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999761 SCV000604134 benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-01-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000999761 SCV001302723 benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV000676631 SCV001733479 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000999761 SCV001761804 benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2021-07-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676631 SCV000802423 benign not provided 2016-02-24 no assertion criteria provided clinical testing
Natera, Inc. RCV000999761 SCV001462533 benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-09-16 no assertion criteria provided clinical testing

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