ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.955_958GTTA[1] (p.Ser320fs) (rs758522600)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672454 SCV000797560 likely pathogenic Bardet-Biedl syndrome 10 2018-02-06 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000256445 SCV000322797 pathogenic Short-rib thoracic dysplasia 3 with or without polydactyly no assertion criteria provided research
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000672454 SCV001132527 likely pathogenic Bardet-Biedl syndrome 10 2015-04-02 no assertion criteria provided curation

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