ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3148G>A (p.Val1050Met)

dbSNP: rs2139751290
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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 RCV001726931 SCV001961471 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing

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