ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.2033del (p.Asn678fs)

dbSNP: rs869025318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000207469 SCV000266517 likely pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2016-01-07 criteria provided, single submitter research
OMIM RCV000207469 SCV000262740 pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2018-04-09 no assertion criteria provided literature only

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