ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) (rs1057517532)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410579 SCV000487756 likely pathogenic Diastrophic dysplasia 2016-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000411229 SCV000487757 likely pathogenic Multiple epiphyseal dysplasia 4 2016-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000409259 SCV000487758 likely pathogenic Atelosteogenesis type 2 2016-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000410391 SCV000487759 likely pathogenic Achondrogenesis, type IB 2016-11-01 criteria provided, single submitter clinical testing

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