ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28709A>G (p.Asn9570Ser)

gnomAD frequency: 0.00001  dbSNP: rs727503641
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152384 SCV000201351 uncertain significance not specified 2013-09-04 criteria provided, single submitter clinical testing The Asn8326Ser variant in TTN has not been reported in any other families with c ardiomyopathy or in large population studies. Computational analyses are limited or unavailable for this variant. Additional information is needed to fully asse ss the clinical significance of the Asn8326Ser variant.
Eurofins Ntd Llc (ga) RCV000725118 SCV000334241 uncertain significance not provided 2015-08-17 criteria provided, single submitter clinical testing

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