ClinVar Miner

Submissions for variant NM_173602.3(DIP2B):c.2755C>A (p.Gln919Lys)

gnomAD frequency: 0.00124  dbSNP: rs151181050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000360615 SCV000339104 uncertain significance not provided 2016-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000360615 SCV004132889 benign not provided 2022-09-01 criteria provided, single submitter clinical testing DIP2B: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003909979 SCV004722399 likely benign DIP2B-related disorder 2022-03-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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