ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.496A>G (p.Met166Val)

gnomAD frequency: 0.00001  dbSNP: rs1556297827
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554637 SCV000657577 likely benign Wilms tumor 1 2023-05-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001260620 SCV001437712 uncertain significance Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing

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