ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20841C>T (p.Pro6947=)

gnomAD frequency: 0.00001  dbSNP: rs768971707
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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
Athena Diagnostics RCV001288560 SCV001475750 likely benign not provided 2020-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001412994 SCV001615096 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-02-04 criteria provided, single submitter clinical testing

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