ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15273T>C (p.Asn5091=)

gnomAD frequency: 0.00001  dbSNP: rs1178246344
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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 RCV001458381 SCV001662203 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-10-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150434 SCV003838047 likely benign Cardiomyopathy 2022-05-09 criteria provided, single submitter clinical testing

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