ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1248C>T (p.Leu416=)

dbSNP: rs1263285909
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000981966 SCV001129975 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827108 SCV002076567 likely benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2020-10-13 no assertion criteria provided clinical testing

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