ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.5114+11T>G

dbSNP: rs2046721049
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334450 SCV001527302 uncertain significance Myofibromatosis, infantile, 2 2018-01-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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