ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.9282C>T (p.Cys3094=)

gnomAD frequency: 0.00281  dbSNP: rs34813328
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 RCV000897638 SCV001041793 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000897638 SCV004147249 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing LRP2: BP4, BP7

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