ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.1179C>T (p.Asn393=)

gnomAD frequency: 0.00399  dbSNP: rs56035446
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949909 SCV001096183 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000949909 SCV001937214 benign not provided 2019-04-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818957 SCV002066352 benign not specified 2019-09-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000949909 SCV004153975 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing TRIO: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV004553392 SCV004747049 benign TRIO-related disorder 2019-05-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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