ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.516C>T (p.Asp172=)

gnomAD frequency: 0.00010  dbSNP: rs369607601
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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 RCV000466178 SCV000559609 likely benign Wilms tumor 1 2024-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496826 SCV002805858 likely benign Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2021-08-04 criteria provided, single submitter clinical testing

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