ClinVar Miner

Submissions for variant NM_015958.3(DPH5):c.329A>G (p.Asn110Ser)

dbSNP: rs368593058
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV002287888 SCV002578209 pathogenic Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 2022-10-06 no assertion criteria provided literature only
Undiagnosed Diseases Network, NIH RCV003492751 SCV004242216 pathogenic DPH5-related diphthamide-deficiency syndrome 2022-12-02 no assertion criteria provided clinical testing

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