ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile)

gnomAD frequency: 0.00272  dbSNP: rs141292904
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000405876 SCV000341037 benign not specified 2016-05-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001249810 SCV000481048 likely benign Neuropathy, hereditary sensory and autonomic, type 1A 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000756719 SCV000516667 likely benign not provided 2020-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000290677 SCV000752342 benign Hereditary sensory and autonomic neuropathy type 1 2025-01-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756719 SCV000884609 benign not provided 2024-10-15 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174091 SCV001337212 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000756719 SCV002498033 benign not provided 2022-03-01 criteria provided, single submitter clinical testing SPTLC1: BS1, BS2

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