ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=)

gnomAD frequency: 0.00004  dbSNP: rs1052539943
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000979510 SCV001127454 likely benign not provided 2023-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001274197 SCV002797972 likely benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2021-09-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274197 SCV001458040 likely benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-04-24 no assertion criteria provided clinical testing

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