ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39368C>T (p.Ala13123Val)

gnomAD frequency: 0.00002  dbSNP: rs761828404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000734658 SCV000714215 likely benign not provided 2020-03-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734658 SCV000862814 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing

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