ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1296C>T (p.Tyr432=)

gnomAD frequency: 0.00001  dbSNP: rs946461494
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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 RCV000551470 SCV000657565 likely benign Wilms tumor 1 2023-11-11 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316728 SCV004015752 likely benign Simpson-Golabi-Behmel syndrome type 1 2023-07-07 criteria provided, single submitter clinical testing

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