ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86296G>C (p.Val28766Leu)

dbSNP: rs1559281436
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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 RCV001508467 SCV001714631 uncertain significance not provided 2020-09-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001508467 SCV005621206 uncertain significance not provided 2023-11-06 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) Computational tools disagree on the variant's effect on normal protein function.

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