ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2080-40A>C

gnomAD frequency: 0.50485  dbSNP: rs7594526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543273 SCV001761811 benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001597300 SCV001831743 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597300 SCV005240619 benign not provided criteria provided, single submitter not provided

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