ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.696T>C (p.Ala232=)

gnomAD frequency: 0.00001  dbSNP: rs2071695506
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001427395 SCV001630072 likely benign Wilms tumor 1 2023-07-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501511 SCV002806084 likely benign Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2021-10-27 criteria provided, single submitter clinical testing

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