ClinVar Miner

Submissions for variant NM_003283.6(TNNT1):c.795= (p.Arg265=)

gnomAD frequency: 0.99361  dbSNP: rs890868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000154008 SCV000203636 benign not specified 2012-09-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154008 SCV000269882 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.795T) is the minor allele. This al lele (T) has been identified in 8.4% (48/572) of Eastern Asian chromosomes by th e 1000 Genomes Project (dbSNP rs890868) and thus meets criteria to be classified as benign.
Invitae RCV001514214 SCV001722009 benign Nemaline myopathy 5 2024-02-01 criteria provided, single submitter clinical testing

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