ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.3081C>T (p.Gly1027=)

gnomAD frequency: 0.00147  dbSNP: rs138156358
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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 RCV000908132 SCV001052875 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502714 SCV002807182 likely benign Donnai-Barrow syndrome 2021-08-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000908132 SCV005244883 benign not provided criteria provided, single submitter not provided

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