ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup)

dbSNP: rs374899270
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652881 SCV000774753 likely benign Neuropathy, hereditary motor and sensory, type 6B 2024-01-29 criteria provided, single submitter clinical testing
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001644735 SCV001519310 likely pathogenic Spastic ataxia 2021-07-12 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV001356125 SCV001714737 uncertain significance not provided 2023-06-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369756 SCV002684948 likely benign Inborn genetic diseases 2019-12-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
CeGaT Center for Human Genetics Tuebingen RCV001356125 SCV003916963 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing SLC25A46: PM4:Supporting
PreventionGenetics, part of Exact Sciences RCV003918083 SCV004728698 likely benign SLC25A46-related disorder 2022-02-02 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).
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356125 SCV001551198 uncertain significance not provided no assertion criteria provided clinical testing

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