ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77622T>C (p.Asn25874=)

gnomAD frequency: 0.00002  dbSNP: rs766227814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000282907 SCV000345546 likely benign not specified 2016-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000938551 SCV001084363 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-04-11 criteria provided, single submitter clinical testing

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