ClinVar Miner

Submissions for variant NM_015176.4(FBXO28):c.1043G>T (p.Arg348Leu)

dbSNP: rs1553292987
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624391 SCV000742347 uncertain significance Inborn genetic diseases 2017-05-04 criteria provided, single submitter clinical testing
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420238 SCV001622658 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PS2_strong;PM2_supporting;PM6_moderate;PM5_moderate;PP2_supporting
CeGaT Center for Human Genetics Tuebingen RCV003311864 SCV004009938 likely pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing FBXO28: PS2, PM2, PM5:Supporting, PS4:Supporting
OMIM RCV001844206 SCV002103312 pathogenic Developmental and epileptic encephalopathy 100 2022-03-09 no assertion criteria provided literature only

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