ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1167del (p.Lys390fs)

dbSNP: rs1085307074
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490349 SCV000267361 likely pathogenic Saldino-Mainzer syndrome 2016-03-18 criteria provided, single submitter reference population

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