ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.416-9T>C

gnomAD frequency: 0.01708  dbSNP: rs115896544
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438512 SCV000514878 benign not specified 2015-07-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000536306 SCV000642064 benign Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810897 SCV001159127 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000536306 SCV002800383 likely benign Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 2021-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922718 SCV004739060 benign TFG-related condition 2019-05-17 criteria provided, single submitter 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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