ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58342A>G (p.Lys19448Glu)

gnomAD frequency: 0.00002  dbSNP: rs900082928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643264 SCV000764951 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-28 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002245064 SCV002512340 uncertain significance Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2021-08-11 criteria provided, single submitter clinical testing ACMG classification criteria: BP4 supporting

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