ClinVar Miner

Submissions for variant NM_005811.5(GDF11):c.916G>A (p.Glu306Lys)

gnomAD frequency: 0.00001  dbSNP: rs1444997099
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001837734 SCV002098352 uncertain significance Vertebral hypersegmentation and orofacial anomalies 2021-12-01 criteria provided, single submitter clinical testing

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