ClinVar Miner

Submissions for variant NM_006268.5(DPF2):c.827G>T (p.Cys276Phe)

dbSNP: rs1555031372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000664329 SCV000599715 pathogenic Coffin-Siris syndrome 1 2017-09-14 criteria provided, single submitter research De novo missense variant in DPF2 identified in a male patient with developmental delay, speech impairment, intellectual disability, short stature, behavioral anomalies, brachydactyly of the fifth finger and hypoplasia of the fifth toenail.
OMIM RCV000656717 SCV000778857 pathogenic Coffin-Siris syndrome 7 2018-06-28 no assertion criteria provided literature only

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