ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.678+17del

gnomAD frequency: 0.00059  dbSNP: rs371101588
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002158861 SCV002475732 likely benign Neuropathy, hereditary motor and sensory, type 6B 2024-01-30 criteria provided, single submitter clinical testing

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