ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.541-20G>A

gnomAD frequency: 0.44690  dbSNP: rs30629
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001838948 SCV002098738 benign Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838949 SCV002098739 benign Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716859 SCV005306124 benign not provided criteria provided, single submitter not provided

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