ClinVar Miner

Submissions for variant NM_002160.4(TNC):c.2960C>T (p.Thr987Met)

gnomAD frequency: 0.00007  dbSNP: rs778506429
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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 RCV000513655 SCV000609347 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330892 SCV001522738 uncertain significance Autosomal dominant nonsyndromic hearing loss 56 2019-03-02 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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