ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98907G>C (p.Gln32969His)

gnomAD frequency: 0.00001  dbSNP: rs1018386868
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000643802 SCV000765489 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798943 SCV002043091 uncertain significance Cardiomyopathy 2020-11-30 criteria provided, single submitter clinical testing

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