ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1090_1091insTTCCAC (p.Asn363_Arg364insLeuPro)

dbSNP: rs1564332930
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Experimental Endocrinology, Slovak Academy of Sciences RCV000714522 SCV000845217 pathogenic Developmental and epileptic encephalopathy, 31A 2018-08-01 criteria provided, single submitter clinical testing

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