ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.348T>C (p.Gly116=)

dbSNP: rs1674229974
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001279493 SCV001466590 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-08-14 no assertion criteria provided clinical testing

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