ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.1146C>T (p.Phe382=)

gnomAD frequency: 0.00239  dbSNP: rs148092033
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179502 SCV000231759 likely benign not specified 2015-05-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375495 SCV000363485 likely benign H syndrome 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000375495 SCV000766318 benign H syndrome 2024-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001706147 SCV004126712 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SLC29A3: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003955085 SCV004766585 likely benign SLC29A3-related condition 2019-03-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706147 SCV001929802 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001706147 SCV001967794 likely benign not provided no assertion criteria provided clinical testing

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