ClinVar Miner

Submissions for variant NM_006268.5(DPF2):c.1037A>G (p.Asp346Gly)

dbSNP: rs1555032044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Lab, CHRU Brest RCV000656720 SCV004697675 pathogenic Coffin-Siris syndrome 7 criteria provided, single submitter clinical testing
OMIM RCV000656720 SCV000778860 pathogenic Coffin-Siris syndrome 7 2018-06-28 no assertion criteria provided literature only

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