ClinVar Miner

Submissions for variant NM_002181.4(IHH):c.545_546insTTT (p.Ser182_Lys183insLeu)

dbSNP: rs2469514044
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002287030 SCV002577045 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing In-frame insertion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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