ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu)

gnomAD frequency: 0.00004  dbSNP: rs200773661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874259 SCV001016404 likely benign Hereditary sensory and autonomic neuropathy type 1 2023-11-27 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174078 SCV001337198 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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