ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2210+10C>T

gnomAD frequency: 0.00019  dbSNP: rs200747013
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001418953 SCV000519998 likely benign not provided 2018-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001418953 SCV001621196 likely benign not provided 2024-10-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003129856 SCV003812764 uncertain significance Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2021-06-15 criteria provided, single submitter clinical testing

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