ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20999A>G (p.Asn7000Ser)

dbSNP: rs764035021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000826968 SCV000968572 likely benign not provided 2018-05-07 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.
Revvity Omics, Revvity RCV000826968 SCV003821048 uncertain significance not provided 2020-03-29 criteria provided, single submitter clinical testing

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