ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.1698C>T (p.Thr566=)

gnomAD frequency: 0.00001  dbSNP: rs201310379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000939341 SCV001085183 likely benign Wilms tumor 1 2023-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002400072 SCV002714240 likely benign Inborn genetic diseases 2020-06-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002488019 SCV002795258 likely benign Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2022-03-25 criteria provided, single submitter clinical testing

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