ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.7878G>A (p.Gln2626=)

gnomAD frequency: 0.00009  dbSNP: rs199593393
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002160939 SCV002467768 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481007 SCV002802694 likely benign Donnai-Barrow syndrome 2021-08-24 criteria provided, single submitter clinical testing

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