ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.11850C>T (p.Ala3950=)

gnomAD frequency: 0.00004  dbSNP: rs765289317
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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 RCV001467350 SCV001671374 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501617 SCV002808117 likely benign Donnai-Barrow syndrome 2021-12-29 criteria provided, single submitter clinical testing

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