ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.741-15dup (rs398102543)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246897 SCV000309759 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261331 SCV000476588 likely benign Familial dysautonomia 2016-06-14 criteria provided, single submitter clinical testing

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