ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64998A>G (p.Ala21666=)

dbSNP: rs876657612
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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 RCV000218312 SCV000271057 likely benign not specified 2015-03-30 criteria provided, single submitter clinical testing p.Ala19098Ala in exon 260 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 RCV002517518 SCV003455934 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-08-20 criteria provided, single submitter clinical testing

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