ClinVar Miner

Submissions for variant NM_032782.5(HAVCR2):c.302C>T (p.Thr101Ile)

gnomAD frequency: 0.00543  dbSNP: rs147827860
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002263968 SCV002545366 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing HAVCR2: BP4
PreventionGenetics, part of Exact Sciences RCV003918257 SCV004737029 benign HAVCR2-related condition 2019-05-21 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).
OMIM RCV000768413 SCV000899168 risk factor Subcutaneous panniculitis-like T-cell lymphoma 2019-04-24 no assertion criteria provided literature only

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