ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.5203+1_5203+2dup

dbSNP: rs1749983541
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252381 SCV001428136 pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2019-01-01 no assertion criteria provided clinical testing

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