ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.918T>C (p.Leu306=)

gnomAD frequency: 0.00001  dbSNP: rs753655328
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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 RCV001396176 SCV001597901 likely benign Wilms tumor 1 2022-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499838 SCV002809546 likely benign Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2022-03-02 criteria provided, single submitter clinical testing

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