ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24951C>T (p.Asn8317=)

gnomAD frequency: 0.00003  dbSNP: rs370154022
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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) RCV000596021 SCV000705311 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001445759 SCV001648793 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-07-19 criteria provided, single submitter clinical testing

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