ClinVar Miner

Submissions for variant NM_002894.3(RBBP8):c.927A>G (p.Ser309=)

gnomAD frequency: 0.00009  dbSNP: rs370136343
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000323410 SCV000407790 uncertain significance Jawad syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373382 SCV000407791 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002056647 SCV002392073 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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