ClinVar Miner

Submissions for variant NM_001098816.3(TENM4):c.4895G>A (p.Arg1632His)

gnomAD frequency: 0.00066  dbSNP: rs199687168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994692 SCV001148381 likely pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333756 SCV001526431 uncertain significance Tremor, hereditary essential, 5 2018-03-02 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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