ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.738-18T>C

gnomAD frequency: 0.00173  dbSNP: rs189675905
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001519652 SCV001728546 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001519652 SCV001756992 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506627 SCV002804918 likely benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2022-05-16 criteria provided, single submitter clinical testing

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