ClinVar Miner

Submissions for variant NM_000344.4(SMN1):c.278A>C (p.Lys93Thr)

dbSNP: rs1580886828
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000791267 SCV000930553 uncertain significance Kugelberg-Welander disease 2019-04-03 criteria provided, single submitter clinical testing This individual has been diagnosed with SMA based on phenotype and RNASeq data that suggests altered splicing and/or changes in expression levels.

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