ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.993C>T (p.Ser331=)

gnomAD frequency: 0.00003  dbSNP: rs141150508
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174087 SCV001337207 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873632 SCV002310231 likely benign Hereditary sensory and autonomic neuropathy type 1 2024-09-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003425978 SCV004160121 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing SPTLC1: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003425978 SCV005876678 likely benign not provided 2024-03-08 criteria provided, single submitter clinical testing

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