ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.4074T>C (p.Arg1358=)

dbSNP: rs746573924
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000933384 SCV001079082 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925809 SCV004741432 likely benign LRPPRC-related disorder 2019-10-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001276353 SCV001462531 likely benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-09-16 no assertion criteria provided clinical testing

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