ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu)

gnomAD frequency: 0.23539  dbSNP: rs1053077
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000281947 SCV000474931 benign Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 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 RCV000281947 SCV001732011 benign Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000677045 SCV001898714 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000677045 SCV005269073 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118642 SCV000153054 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000677045 SCV000802880 benign not provided 2016-02-23 no assertion criteria provided clinical testing

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