ClinVar Miner

Submissions for variant NM_170662.5(CBLB):c.1865G>C (p.Ser622Thr)

gnomAD frequency: 0.00495  dbSNP: rs41302192
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000885972 SCV001029453 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000885972 SCV004150564 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CBLB: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003915193 SCV004734883 likely benign CBLB-related condition 2019-02-21 criteria provided, single submitter 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).
ITMI RCV000120475 SCV000084628 not provided not specified 2013-09-19 no assertion provided reference population

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