ClinVar Miner

Submissions for variant NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) (rs74484860)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123791 SCV000167134 benign not specified 2013-01-30 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.
Illumina Clinical Services Laboratory,Illumina RCV000326682 SCV000480877 likely benign 3-Methylglutaconic aciduria type 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000326682 SCV000632427 benign 3-Methylglutaconic aciduria type 1 2017-08-04 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676897 SCV000802712 benign not provided 2016-03-15 no assertion criteria provided clinical testing

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