ClinVar Miner

Submissions for variant NM_002181.4(IHH):c.787C>T (p.Gln263Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003234750 SCV003932631 likely pathogenic Brachydactyly type A1A criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003234750 SCV004806579 uncertain significance Brachydactyly type A1A 2024-03-26 criteria provided, single submitter clinical testing

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