ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.2076A>G (p.Thr692=)

gnomAD frequency: 0.00003  dbSNP: rs772992405
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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 RCV002163879 SCV002475821 likely benign not provided 2023-04-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494494 SCV002801126 likely benign Donnai-Barrow syndrome 2022-01-18 criteria provided, single submitter clinical testing

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