ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.391delC (p.Leu131Cysfs) (rs786200881)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409927 SCV000487650 likely pathogenic Diastrophic dysplasia 2016-06-24 criteria provided, single submitter clinical testing
Counsyl RCV000411386 SCV000487651 likely pathogenic Multiple epiphyseal dysplasia 4 2016-06-24 criteria provided, single submitter clinical testing
Counsyl RCV000004304 SCV000487652 likely pathogenic Atelosteogenesis type 2 2016-06-24 criteria provided, single submitter clinical testing
Counsyl RCV000410549 SCV000487653 likely pathogenic Achondrogenesis, type IB 2016-06-24 criteria provided, single submitter clinical testing
OMIM RCV000004304 SCV000024471 pathogenic Atelosteogenesis type 2 1996-12-01 no assertion criteria provided literature only

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