ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) (rs148575027)

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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 RCV000362182 SCV000430613 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2017-04-28 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV000676634 SCV001068906 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000676634 SCV001152248 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676634 SCV000802426 likely benign not provided 2017-07-31 no assertion criteria provided clinical testing
Natera, Inc. RCV000362182 SCV001458045 likely benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-06-06 no assertion criteria provided clinical testing

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