ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.5496+34G>A

gnomAD frequency: 0.00304  dbSNP: rs62345056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001686169 SCV001900351 benign not provided 2020-03-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838768 SCV002098757 benign Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838769 SCV002098759 benign Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2021-09-10 criteria provided, single submitter clinical testing

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