ClinVar Miner

Submissions for variant NM_006268.5(DPF2):c.1049G>A (p.Arg350His)

dbSNP: rs1555032051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001265686 SCV001443853 likely pathogenic Inborn genetic diseases 2019-02-07 criteria provided, single submitter clinical testing
OMIM RCV000656719 SCV000778859 pathogenic Coffin-Siris syndrome 7 2018-06-28 no assertion criteria provided literature only

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