ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.205_210dup (p.Gly69_Leu70dup)

dbSNP: rs2146019590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733656 SCV001984404 uncertain significance Ethylmalonic encephalopathy 2021-01-24 criteria provided, single submitter clinical testing

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