ClinVar Miner

Submissions for variant NM_012073.5(CCT5):c.1317+10C>A

gnomAD frequency: 0.73429  dbSNP: rs2578642
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000609847 SCV000451823 benign Hereditary sensory and autonomic neuropathy with spastic paraplegia 2018-01-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000609847 SCV001728665 benign Hereditary sensory and autonomic neuropathy with spastic paraplegia 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000609847 SCV001776016 benign Hereditary sensory and autonomic neuropathy with spastic paraplegia 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001683393 SCV001900478 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683393 SCV005298676 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000609847 SCV000734372 benign Hereditary sensory and autonomic neuropathy with spastic paraplegia no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700080 SCV001918936 benign not specified no assertion criteria provided clinical testing

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