ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56653C>T (p.Pro18885Ser)

gnomAD frequency: 0.00001  dbSNP: rs747971851
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004696202 SCV005188130 uncertain significance not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV000475923 SCV000542834 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-08-15 criteria provided, single submitter clinical testing

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