ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2354T>C (p.Leu785Pro)

dbSNP: rs1573068097
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997129 SCV001152258 likely pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing

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