ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.6154-47G>A

gnomAD frequency: 0.01662  dbSNP: rs62345860
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001552950 SCV001773732 likely benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838685 SCV002098764 benign Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838686 SCV002098765 benign Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001552950 SCV005259695 likely benign not provided criteria provided, single submitter not provided

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