ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.831G>A (p.Leu277=) (rs8141558)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126199 SCV000169694 benign not specified 2011-07-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000126199 SCV000308568 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406103 SCV000439330 likely benign Mitochondrial DNA depletion syndrome 1 (MNGIE type) 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348879 SCV000484006 likely benign Mitochondrial complex IV deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402916 SCV000484007 likely benign Fatal Infantile Cardioencephalomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000676462 SCV001146576 benign not provided 2019-04-30 criteria provided, single submitter clinical testing
Invitae RCV000676462 SCV001721775 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
GeneReviews RCV000406103 SCV000264487 benign Mitochondrial DNA depletion syndrome 1 (MNGIE type) 2016-01-14 no assertion criteria provided literature only
Mayo Clinic Laboratories, Mayo Clinic RCV000676462 SCV000802244 benign not provided 2016-02-29 no assertion criteria provided clinical testing
Natera, Inc. RCV001276277 SCV001462371 benign Mitochondrial neurogastrointestinal encephalomyopathy 2020-09-16 no assertion criteria provided clinical testing

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