ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.8831-16C>T

gnomAD frequency: 0.00002  dbSNP: rs775327679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002152803 SCV002418255 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500094 SCV002810754 likely benign Donnai-Barrow syndrome 2021-11-16 criteria provided, single submitter clinical testing

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