ClinVar Miner

Submissions for variant NM_006070.6(TFG):c.415+16A>G

gnomAD frequency: 0.00215  dbSNP: rs201290760
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425367 SCV000518210 benign not specified 2016-10-18 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001702373 SCV001473918 benign not provided 2023-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062309 SCV002428993 benign Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 2024-01-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000425367 SCV001920046 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702373 SCV001931955 likely benign not provided no assertion criteria provided clinical testing

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