ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.3191-17G>A

gnomAD frequency: 0.00009  dbSNP: rs763192172
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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 RCV002133875 SCV002459672 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480995 SCV002794744 likely benign Donnai-Barrow syndrome 2022-02-07 criteria provided, single submitter clinical testing

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