ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1698_1704delinsGC (p.Ala567fs)

dbSNP: rs1554815914
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeniaGeo, Laboratorio Genia RCV000509053 SCV000606802 likely pathogenic Tuberous sclerosis syndrome 2017-10-04 criteria provided, single submitter clinical testing Frameshift with STOP codon, novel to our knowledge

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