ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.52G>T (p.Ala18Ser)

gnomAD frequency: 0.00357  dbSNP: rs191332512
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652877 SCV000774749 likely benign Neuropathy, hereditary motor and sensory, type 6B 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001592827 SCV001816804 likely benign not provided 2021-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343377 SCV002643088 likely benign Inborn genetic diseases 2020-03-17 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.
Breakthrough Genomics, Breakthrough Genomics RCV001592827 SCV005228530 likely benign not provided criteria provided, single submitter not provided

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