ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.13044A>T (p.Gly4348=)

dbSNP: rs143254052
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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 RCV000972684 SCV001120407 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503089 SCV002810771 likely benign Donnai-Barrow syndrome 2021-11-29 criteria provided, single submitter clinical testing

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