ClinVar Miner

Submissions for variant NM_004484.4(GPC3):c.505G>T (p.Glu169Ter)

dbSNP: rs2071700502
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002077378 SCV002320815 likely pathogenic Simpson-Golabi-Behmel syndrome type 1 2022-01-01 criteria provided, single submitter clinical testing

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