ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.185C>G (p.Ser62Ter) (rs1057517523)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409914 SCV000487710 likely pathogenic Diastrophic dysplasia 2016-09-01 criteria provided, single submitter clinical testing
Counsyl RCV000411463 SCV000487711 likely pathogenic Multiple epiphyseal dysplasia 4 2016-09-01 criteria provided, single submitter clinical testing
Counsyl RCV000409043 SCV000487712 likely pathogenic Atelosteogenesis type 2 2016-09-01 criteria provided, single submitter clinical testing
Counsyl RCV000410073 SCV000487713 likely pathogenic Achondrogenesis, type IB 2016-09-01 criteria provided, single submitter clinical testing

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