ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71832A>C (p.Lys23944Asn)

dbSNP: rs1449315408
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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) RCV000591142 SCV000702515 uncertain significance not provided 2016-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000591142 SCV000983729 likely benign not provided 2018-04-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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