ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.9177C>T (p.Asp3059=)

gnomAD frequency: 0.00012  dbSNP: rs763193608
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490059 SCV001694616 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501679 SCV002808050 likely benign Donnai-Barrow syndrome 2021-12-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001490059 SCV005041983 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing LRP2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001490059 SCV005256560 likely benign not provided criteria provided, single submitter not provided

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