ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp) (rs137852727)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000055967 SCV000087009 pathologic Chromosome 9q deletion syndrome 2010-10-05 no assertion criteria provided curation Converted during submission to Pathogenic.
Laboratoire de Cytogenetique,Hospices Civils de Lyon RCV000055967 SCV000890107 likely pathogenic Chromosome 9q deletion syndrome 2018-03-19 criteria provided, single submitter clinical testing

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