ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.909C>T (p.Thr303=)

gnomAD frequency: 0.00008  dbSNP: rs375394006
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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 RCV001960546 SCV002229258 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507697 SCV002795607 likely benign Donnai-Barrow syndrome 2021-12-17 criteria provided, single submitter clinical testing

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