ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.828G>A (p.Ser276=)

gnomAD frequency: 0.00017  dbSNP: rs146048301
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892450 SCV001036322 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479018 SCV002798822 likely benign Donnai-Barrow syndrome 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000892450 SCV005256594 likely benign not provided criteria provided, single submitter not provided

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