ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1021C>T (p.Arg341Cys)

gnomAD frequency: 0.00002  dbSNP: rs566579080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722089 SCV000251209 uncertain significance not provided 2021-05-19 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 RCV001722089 SCV004517621 likely benign not provided 2023-02-10 criteria provided, single submitter clinical testing

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