ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.258G>T (p.Leu86=)

gnomAD frequency: 0.00093  dbSNP: rs150620449
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001702480 SCV000528402 likely benign not provided 2019-10-29 criteria provided, single submitter clinical testing
Invitae RCV000534832 SCV000642061 benign Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 2024-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001702480 SCV001477721 benign not provided 2021-04-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702480 SCV002062498 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TFG: BP4, BS2
Ambry Genetics RCV002429412 SCV002743194 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003902577 SCV004736996 likely benign TFG-related condition 2019-07-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000444607 SCV001917516 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702480 SCV001932867 likely benign not provided no assertion criteria provided clinical testing

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