ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.631G>A (p.Val211Met)

gnomAD frequency: 0.00257  dbSNP: rs114859074
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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 RCV001082903 SCV000656080 likely benign Neuropathy, hereditary motor and sensory, type 6B 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000556314 SCV001154451 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing SLC25A46: BP4, BS2
GeneDx RCV000556314 SCV001803381 likely benign not provided 2021-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367954 SCV002660616 likely benign Inborn genetic diseases 2021-07-14 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 RCV003900235 SCV004725742 likely benign SLC25A46-related disorder 2020-02-17 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).
Breakthrough Genomics, Breakthrough Genomics RCV000556314 SCV005221467 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001701050 SCV001918995 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000556314 SCV001970800 likely benign not provided no assertion criteria provided clinical testing

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