ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1631C>T (p.Pro544Leu)

gnomAD frequency: 0.00011  dbSNP: rs375606908
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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 RCV000228231 SCV000288571 benign Wilms tumor 1 2025-02-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258847 SCV002537449 likely benign Hereditary cancer-predisposing syndrome 2021-11-27 criteria provided, single submitter curation
GeneDx RCV003128603 SCV003805659 likely benign not provided 2018-07-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316283 SCV004015751 benign Simpson-Golabi-Behmel syndrome type 1 2023-07-07 criteria provided, single submitter clinical testing

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