ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.101409C>T (p.Ser33803=)

gnomAD frequency: 0.00003  dbSNP: rs1387260088
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613725 SCV000719468 likely benign not specified 2017-05-11 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.
Invitae RCV000903038 SCV001047488 likely benign not provided 2017-10-25 criteria provided, single submitter clinical testing

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