ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.2864+37A>G

gnomAD frequency: 0.50901  dbSNP: rs5744844
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001693886 SCV001914776 benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789538 SCV002031652 benign Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789539 SCV002031654 benign Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001693886 SCV005237246 benign not provided criteria provided, single submitter not provided

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