ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.4020C>T (p.Ile1340=)

gnomAD frequency: 0.10797  dbSNP: rs7715916
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696326 SCV001915951 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838799 SCV002098746 benign Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838800 SCV002098748 benign Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001696326 SCV005306163 benign not provided criteria provided, single submitter not provided

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