ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15200C>T (p.Thr5067Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004792027 SCV005408900 uncertain significance not provided 2023-07-26 criteria provided, single submitter clinical testing BP4
Athena Diagnostics RCV004792027 SCV005621438 uncertain significance not provided 2024-05-28 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Polyphen and MutationTaster predict this amino acid change may be benign.

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