ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.3123T>C (p.Asn1041=)

gnomAD frequency: 0.00006  dbSNP: rs1028631475
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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 RCV002159615 SCV002335257 likely benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494028 SCV002802881 likely benign Donnai-Barrow syndrome 2021-12-07 criteria provided, single submitter clinical testing

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