ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.5225-7C>T (rs3213673)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423681 SCV000519492 benign not specified 2016-01-08 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 RCV000325321 SCV000484286 benign Pyruvate dehydrogenase complex deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363636 SCV000484287 benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276408 SCV000484288 benign Maple syrup urine disease 2016-06-14 criteria provided, single submitter clinical testing

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