ClinVar Miner

Submissions for variant NM_003566.4(EEA1):c.3216T>A (p.Asn1072Lys)

gnomAD frequency: 0.00332  dbSNP: rs118081497
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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 RCV000455995 SCV000539074 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 RCV004707284 SCV005232587 benign not provided criteria provided, single submitter not provided

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