ClinVar Miner

Submissions for variant NM_001394372.1(BICRA):c.936del (p.Ala313fs)

dbSNP: rs1973010599
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001310215 SCV001499823 uncertain significance BICRA-related disorder 2019-07-10 criteria provided, single submitter clinical testing
OMIM RCV001431521 SCV001634279 pathogenic Coffin-Siris syndrome 12 2021-05-20 no assertion criteria provided literature only

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