ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1616G>C (p.Ser539Thr)

gnomAD frequency: 0.00003  dbSNP: rs137858712
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529032 SCV000657569 benign Wilms tumor 1 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005049601 SCV005683281 uncertain significance Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2024-04-15 criteria provided, single submitter clinical testing

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