ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser)

gnomAD frequency: 0.03712  dbSNP: rs1131603
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000305468 SCV000437897 benign Transcobalamin II deficiency 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.
Invitae RCV000305468 SCV000632392 benign Transcobalamin II deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001643041 SCV001857399 benign not provided 2018-11-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28334792, 23754956)
GenomeConnect, ClinGen RCV001643041 SCV002074794 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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