ClinVar Miner

Submissions for variant NM_014738.6(TMEM94):c.1544C>T (p.Ser515Phe)

dbSNP: rs2052220799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333091 SCV001525577 uncertain significance Intellectual developmental disorder with cardiac defects and dysmorphic facies 2019-11-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Daryl Scott Lab, Baylor College of Medicine RCV001333091 SCV005871241 uncertain significance Intellectual developmental disorder with cardiac defects and dysmorphic facies 2024-01-01 criteria provided, single submitter clinical testing PM2

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