ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7658T>G (p.Leu2553Trp)

dbSNP: rs2149752967
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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 RCV002077376 SCV002320799 likely pathogenic Cornelia de Lange syndrome 1 2022-01-01 criteria provided, single submitter clinical testing

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