ClinVar Miner

Submissions for variant NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) (rs886039767)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000256182 SCV000803820 likely pathogenic Myasthenic syndrome, congenital, 20, presynaptic 2016-06-21 criteria provided, single submitter clinical testing
OMIM RCV000256182 SCV000322732 pathogenic Myasthenic syndrome, congenital, 20, presynaptic 2016-10-07 no assertion criteria provided literature only

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