ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38311A>G (p.Lys12771Glu)

gnomAD frequency: 0.00093  dbSNP: rs551811137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080442 SCV000555022 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714022 SCV000844685 benign not provided 2018-07-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000714022 SCV001152940 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing TTN: BS2

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