ClinVar Miner

Submissions for variant NM_018684.4(ZC4H2):c.592C>G (p.Arg198Gly)

dbSNP: rs137962226
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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 RCV002074480 SCV002320768 likely pathogenic Wieacker-Wolff syndrome, female-restricted 2022-01-01 criteria provided, single submitter clinical testing

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