ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71731A>G (p.Lys23911Glu)

gnomAD frequency: 0.00001  dbSNP: rs763131148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001662746 SCV001879689 uncertain significance not provided 2020-10-21 criteria provided, single submitter clinical testing
Dr. Alfred Bastarche Laboratory, Dr. Georges L. Dumont University Hospital Centre RCV000761209 SCV000807716 uncertain significance Limb-girdle muscular dystrophy 2018-09-19 no assertion criteria provided clinical testing

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