ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.58-19G>C

gnomAD frequency: 0.00001  dbSNP: rs376799813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172879 SCV001335952 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002558740 SCV003285922 likely benign Hereditary sensory and autonomic neuropathy type 1 2024-10-21 criteria provided, single submitter clinical testing

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