ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1032+9C>T

gnomAD frequency: 0.00069  dbSNP: rs200782847
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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 RCV000464390 SCV000559606 benign Wilms tumor 1 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506152 SCV002798752 likely benign Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2022-05-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702495 SCV001928289 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702495 SCV001974920 likely benign not provided no assertion criteria provided clinical testing

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