ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs)

dbSNP: rs886037847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000239460 SCV000297871 pathogenic SIN3A-related intellectual disability syndrome due to a point mutation 2016-08-12 no assertion criteria provided literature only
Solve-RD Consortium RCV000239460 SCV005200052 likely pathogenic SIN3A-related intellectual disability syndrome due to a point mutation 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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