ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.3896A>G (p.Gln1299Arg)

gnomAD frequency: 0.00046  dbSNP: rs137916023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001566327 SCV001789829 uncertain significance not provided 2020-06-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001566327 SCV003295348 benign not provided 2022-07-01 criteria provided, single submitter clinical testing

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