ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.1955_1958del (p.Asp652fs) (rs1057517474)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411814 SCV000487514 likely pathogenic Diastrophic dysplasia 2016-02-16 criteria provided, single submitter clinical testing
Counsyl RCV000409824 SCV000487515 likely pathogenic Multiple epiphyseal dysplasia type 4 2016-02-16 criteria provided, single submitter clinical testing
Counsyl RCV000410934 SCV000487516 likely pathogenic Atelosteogenesis type II 2016-02-16 criteria provided, single submitter clinical testing
Counsyl RCV000412444 SCV000487517 likely pathogenic Achondrogenesis, type IB 2016-02-16 criteria provided, single submitter clinical testing

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