ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75539G>T (p.Gly25180Val)

gnomAD frequency: 0.00001  dbSNP: rs745329154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768926 SCV000900299 uncertain significance Cardiomyopathy 2017-06-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815433 SCV002063947 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing

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