ClinVar Miner

Submissions for variant NM_013296.5(GPSM2):c.858_859delinsGT (p.Tyr286_Ser287delinsTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetic Laboratory,Second Faculty of Medicine, Charles University RCV001374666 SCV001571592 likely pathogenic Chudley-McCullough syndrome 2021-03-30 criteria provided, single submitter clinical testing

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