ClinVar Miner

Submissions for variant NM_012073.5(CCT5):c.1086C>G (p.Ile362Met)

gnomAD frequency: 0.00491  dbSNP: rs141675330
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001082153 SCV000289857 benign Hereditary sensory and autonomic neuropathy with spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001082153 SCV000451821 benign Hereditary sensory and autonomic neuropathy with spastic paraplegia 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000232683 SCV001154368 benign not provided 2024-05-01 criteria provided, single submitter clinical testing CCT5: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001082153 SCV002049061 benign Hereditary sensory and autonomic neuropathy with spastic paraplegia 2023-11-29 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000232683 SCV001798811 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000232683 SCV001923480 likely benign not provided no assertion criteria provided clinical testing

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