ClinVar Miner

Submissions for variant NM_019042.5(PUS7):c.398+1G>T

dbSNP: rs1264890888
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000991203 SCV001142580 uncertain significance Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 2018-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266255 SCV001444427 likely pathogenic Inborn genetic diseases 2019-07-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000991203 SCV003836258 pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 2022-03-21 criteria provided, single submitter clinical testing
OMIM RCV000991203 SCV002498726 pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 2022-04-08 no assertion criteria provided literature only

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