ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.699+2T>C

dbSNP: rs1057517461
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411790 SCV000487405 pathogenic Diastrophic dysplasia 2016-02-23 criteria provided, single submitter clinical testing
Counsyl RCV000409387 SCV000487406 pathogenic Multiple epiphyseal dysplasia type 4 2016-02-23 criteria provided, single submitter clinical testing
Counsyl RCV000410512 SCV000487407 pathogenic Atelosteogenesis type II 2016-02-23 criteria provided, single submitter clinical testing
Counsyl RCV000411619 SCV000487408 pathogenic Achondrogenesis, type IB 2016-02-23 criteria provided, single submitter clinical testing

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