ClinVar Miner

Submissions for variant NM_000523.4(HOXD13):c.1007C>G (p.Ser336Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005030599 SCV005655649 uncertain significance Brachydactyly type E1; Brachydactyly type D; Syndactyly type 5; Brachydactyly-syndactyly syndrome; Synpolydactyly type 1 2024-05-10 criteria provided, single submitter clinical testing

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