ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) (rs45461899)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001249803 SCV000481057 likely benign Neuropathy, hereditary sensory and autonomic, type 1A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000313112 SCV000626934 benign Hereditary sensory and autonomic neuropathy type 1 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001249803 SCV001158982 benign Neuropathy, hereditary sensory and autonomic, type 1A 2020-05-05 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172883 SCV001335956 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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