ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2959A>G (p.Ser987Gly)

dbSNP: rs751339540
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280843 SCV001468187 uncertain significance Kleefstra syndrome 1 2020-06-19 no assertion criteria provided clinical testing

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