ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.1137-23GT[6]

dbSNP: rs147137401
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000341374 SCV000481052 likely benign Neuropathy, hereditary sensory and autonomic, type 1A 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000993078 SCV001145793 benign not provided 2018-09-25 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172887 SCV001335960 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV000993078 SCV001913845 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058822 SCV002408368 benign Hereditary sensory and autonomic neuropathy type 1 2024-01-31 criteria provided, single submitter clinical testing

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