ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1318G>A (p.Gly440Arg)

gnomAD frequency: 0.00001  dbSNP: rs1203009272
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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 RCV000653754 SCV000775644 benign Wilms tumor 1 2024-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005046838 SCV005683288 uncertain significance Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2024-06-14 criteria provided, single submitter clinical testing

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