ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.8847G>A (p.Ser2949=)

gnomAD frequency: 0.00021  dbSNP: rs181346149
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 RCV000923807 SCV001069302 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502809 SCV002807883 likely benign Donnai-Barrow syndrome 2022-02-12 criteria provided, single submitter clinical testing

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