ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63921G>A (p.Glu21307=)

gnomAD frequency: 0.00001  dbSNP: rs1466883677
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Total submissions: 2
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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 RCV000601004 SCV000712956 likely benign not specified 2017-02-10 criteria provided, single submitter clinical testing p.Glu18739Glu in exon 256 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.
Invitae RCV001430549 SCV001633291 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-05-22 criteria provided, single submitter clinical testing

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