ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1561C>T (p.Arg521Cys)

gnomAD frequency: 0.00003  dbSNP: rs759543703
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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 RCV000689242 SCV000816884 likely benign Wilms tumor 1 2023-07-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005049656 SCV005683284 uncertain significance Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2024-05-20 criteria provided, single submitter clinical testing

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