ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn)

gnomAD frequency: 0.00048  dbSNP: rs202123515
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001082152 SCV000656076 likely benign Neuropathy, hereditary motor and sensory, type 6B 2024-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000762153 SCV000892417 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000762153 SCV001812828 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000762153 SCV002542128 uncertain significance not provided 2021-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330970 SCV002628385 likely benign Inborn genetic diseases 2019-11-27 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.
PreventionGenetics, part of Exact Sciences RCV003952878 SCV004774426 likely benign SLC25A46-related disorder 2022-04-28 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 RCV000762153 SCV001920747 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000762153 SCV001976187 uncertain significance not provided no assertion criteria provided clinical testing

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