ClinVar Miner

Submissions for variant NM_152467.5(KLHL10):c.887T>C (p.Ile296Thr)

gnomAD frequency: 0.00574  dbSNP: rs61752339
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Reproductive Genetics, University of Münster RCV000845252 SCV000987210 uncertain significance Non-obstructive azoospermia 2020-06-07 criteria provided, single submitter research
Invitae RCV000950262 SCV001096555 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950262 SCV004138346 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing KLHL10: BS2
PreventionGenetics, part of Exact Sciences RCV003975364 SCV004789117 benign KLHL10-related condition 2019-07-18 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).

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