ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24469G>A (p.Gly8157Ser)

gnomAD frequency: 0.00002  dbSNP: rs753025964
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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 RCV000542379 SCV000642854 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171034 SCV001333703 uncertain significance Cardiomyopathy 2018-03-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139786 SCV003820175 uncertain significance not provided 2021-10-25 criteria provided, single submitter clinical testing

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