ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.9981C>G (p.Ala3327=)

gnomAD frequency: 0.00005  dbSNP: rs149558767
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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 RCV000918653 SCV001063971 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502789 SCV002808543 likely benign Donnai-Barrow syndrome 2022-03-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000918653 SCV004147246 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing LRP2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000918653 SCV005256558 likely benign not provided criteria provided, single submitter not provided

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