ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6398_6407del (p.Val2133fs)

dbSNP: rs2138431829
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002221859 SCV002499112 likely pathogenic Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 2022-03-09 criteria provided, single submitter clinical testing PVS1 PM2

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