ClinVar Miner

Submissions for variant NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs)

dbSNP: rs753229591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV000758220 SCV001426435 likely pathogenic Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome criteria provided, single submitter clinical testing
OMIM RCV000758220 SCV000886740 pathogenic Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 2020-11-25 no assertion criteria provided literature only

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