ClinVar Miner

Submissions for variant NM_170662.5(CBLB):c.1396A>G (p.Asn466Asp)

gnomAD frequency: 0.00129  dbSNP: rs61758360
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003915192 SCV004734303 benign CBLB-related condition 2019-03-20 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000120470 SCV000084623 not provided not specified 2013-09-19 no assertion provided reference population

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