ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17445A>G (p.Ala5815=)

gnomAD frequency: 0.00001  dbSNP: rs1227218365
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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 RCV000865174 SCV001006102 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV001712807 SCV001944095 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing

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