ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) (rs181702963)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516726 SCV000616132 benign not specified 2016-12-31 criteria provided, single submitter clinical testing
Invitae RCV000554892 SCV000643605 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000516726 SCV000711407 likely benign not specified 2017-06-01 criteria provided, single submitter clinical testing p.Gly20934Gly in exon 275 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 7/34402 Latino c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org/; dbSNP rs181702963).

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