ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48073A>T (p.Ser16025Cys)

dbSNP: rs1185643168
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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 RCV001332832 SCV001525259 uncertain significance Tibial muscular dystrophy 2019-08-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV003135990 SCV003821215 uncertain significance not provided 2019-11-14 criteria provided, single submitter clinical testing

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