ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.648G>C (p.Met216Ile)

gnomAD frequency: 0.00004  dbSNP: rs752516966
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226359 SCV000288576 benign Wilms tumor 1 2023-12-20 criteria provided, single submitter clinical testing
GeneDx RCV001572061 SCV001796641 likely benign not provided 2020-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354657 SCV002656078 likely benign Inborn genetic diseases 2019-08-27 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 RCV002500784 SCV002813760 likely benign Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 2022-03-04 criteria provided, single submitter clinical testing

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