ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19818A>G (p.Lys6606=)

gnomAD frequency: 0.00003  dbSNP: rs397517492
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Total submissions: 8
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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 RCV000039932 SCV000063623 likely benign not specified 2012-02-21 criteria provided, single submitter clinical testing Lys5362Lys in exon 65 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. Lys5362Lys in exon 65 of TTN (allele frequenc y = n/a)
Eurofins Ntd Llc (ga) RCV000039932 SCV000342988 likely benign not specified 2016-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000458095 SCV000555360 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000039932 SCV000616014 benign not specified 2016-12-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839524 SCV002099939 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839525 SCV002099940 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839526 SCV002099941 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839523 SCV002099942 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing

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