ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1255G>A (p.Asp419Asn)

gnomAD frequency: 0.00001  dbSNP: rs755544588
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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 RCV000693328 SCV000821193 likely benign Wilms tumor 1 2023-09-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005049660 SCV005683290 uncertain significance Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2024-04-16 criteria provided, single submitter clinical testing

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