ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.517A>G (p.Ser173Gly)

dbSNP: rs2071700126
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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 RCV001062514 SCV001227320 likely benign Wilms tumor 1 2024-03-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047273 SCV005683302 uncertain significance Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2024-05-07 criteria provided, single submitter clinical testing

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