ClinVar Miner

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

dbSNP: 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 Congenital myasthenic syndrome 20 2016-06-21 criteria provided, single submitter clinical testing
OMIM RCV000256182 SCV000322732 pathogenic Congenital myasthenic syndrome 20 2016-10-07 no assertion criteria provided literature only

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