ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.3312C>T (p.His1104=)

gnomAD frequency: 0.00004  dbSNP: rs188152163
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 RCV002109446 SCV002392657 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494244 SCV002799822 likely benign Donnai-Barrow syndrome 2021-08-19 criteria provided, single submitter clinical testing

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