ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter) (rs1553410995)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671275 SCV000796234 likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2017-12-08 criteria provided, single submitter clinical testing

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