ClinVar Miner

Submissions for variant NM_000773.4(CYP2E1):c.963= (p.Ile321=)

gnomAD frequency: 0.96990  dbSNP: rs915909
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455117 SCV000538769 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Breakthrough Genomics, Breakthrough Genomics RCV004718657 SCV005324553 benign not provided criteria provided, single submitter not provided

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