ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87940G>A (p.Ala29314Thr)

gnomAD frequency: 0.00002  dbSNP: rs923029692
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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 RCV000532068 SCV000643835 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-04-12 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002223867 SCV002501966 uncertain significance not provided 2022-02-09 criteria provided, single submitter clinical testing

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