ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.624+1G>A

gnomAD frequency: 0.00001  dbSNP: rs587777808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002640 SCV000022798 pathogenic Bardet-Biedl syndrome 8 2006-01-01 no assertion criteria provided literature only
Clinical Genetics, Academic Medical Center RCV001699099 SCV001922087 pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699099 SCV001928790 pathogenic not provided no assertion criteria provided clinical testing

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