ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.1137G>T (p.Glu379Asp)

gnomAD frequency: 0.03322  dbSNP: rs79149180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083141 SCV000656069 benign Neuropathy, hereditary motor and sensory, type 6B 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000827568 SCV000969221 benign not provided 2018-06-16 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.

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