ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1390G>C (p.Gly464Arg)

dbSNP: rs957783084
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000432315 SCV000511624 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Natera, Inc. RCV001835793 SCV002076565 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-12-03 no assertion criteria provided clinical testing

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