ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1853+1G>A

dbSNP: rs1573930690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000985009 SCV004804754 uncertain significance Bardet-Biedl syndrome 16 2024-03-17 criteria provided, single submitter research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985009 SCV001132940 likely pathogenic Bardet-Biedl syndrome 16 2019-08-25 no assertion criteria provided clinical testing

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