ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1015G>A (p.Gly339Arg)

dbSNP: rs2053152079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420327 SCV001622747 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PM1_moderate;PM2_supporting;PM5_moderate;PM6_moderate;PP2_supporting;PP3_supporting
Mendelics RCV002246382 SCV002519591 pathogenic DYRK1A-related intellectual disability syndrome 2022-05-04 criteria provided, single submitter clinical testing

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