ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28710T>C (p.Asn9570=)

gnomAD frequency: 0.00001  dbSNP: rs727504991
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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 RCV000156409 SCV000206127 likely benign not specified 2014-03-06 criteria provided, single submitter clinical testing Asn8326Asn in exon 96 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Asn8326Asn in exon 96 of TTN (allele frequenc y = n/a)
Invitae RCV001484273 SCV001688689 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-11 criteria provided, single submitter clinical testing

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