ClinVar Miner

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

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Total submissions: 7
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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 2020-12-07 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
GeneDx RCV001613242 SCV001836981 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV001699408 SCV001918104 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699408 SCV001929967 benign not specified no assertion criteria provided clinical testing

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