ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.972T>C (p.Phe324=)

gnomAD frequency: 0.00004  dbSNP: rs183678432
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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 RCV000226760 SCV000288579 benign Wilms tumor 1 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494647 SCV002798122 likely benign Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2022-03-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437024 SCV004165655 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing GPC3: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003907872 SCV004727019 likely benign GPC3-related disorder 2019-04-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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