ClinVar Miner

Submissions for variant NM_000523.4(HOXD13):c.203_204insA (p.Ala69fs)

gnomAD frequency: 0.00006  dbSNP: rs771082552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782259 SCV002016618 likely pathogenic not provided 2021-08-24 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV005414338 SCV006081209 likely pathogenic Brachydactyly-syndactyly syndrome 2024-11-05 no assertion criteria provided case-control

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