ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57786T>C (p.Asn19262=)

dbSNP: rs876657608
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216975 SCV000271042 likely benign not specified 2015-03-04 criteria provided, single submitter clinical testing p.Asn16694Asn in exon 244 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.

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