ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48827T>C (p.Ile16276Thr)

gnomAD frequency: 0.00003  dbSNP: rs759916327
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243899 SCV000318228 uncertain significance Cardiovascular phenotype 2013-01-28 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
GeneDx RCV001541311 SCV001759288 likely benign not provided 2019-03-08 criteria provided, single submitter clinical testing

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