ClinVar Miner

Submissions for variant NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs)

dbSNP: rs1555907623
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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 RCV000656437 SCV000678324 likely pathogenic Intellectual disability 2017-01-01 criteria provided, single submitter research
OMIM RCV000851337 SCV000993640 pathogenic Basilicata-Akhtar syndrome 2019-12-12 no assertion criteria provided literature only

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