ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1488+8C>G

gnomAD frequency: 0.00001  dbSNP: rs772715775
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000919991 SCV001065349 likely benign not provided 2023-02-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271389 SCV001452500 likely benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-09-16 no assertion criteria provided clinical testing

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