ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.207del (p.Phe69fs) (rs1057517462)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409375 SCV000487423 likely pathogenic Diastrophic dysplasia 2015-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000410474 SCV000487424 likely pathogenic Multiple epiphyseal dysplasia type 4 2015-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000411549 SCV000487425 likely pathogenic Atelosteogenesis type II 2015-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000409102 SCV000487426 likely pathogenic Achondrogenesis, type IB 2015-11-18 criteria provided, single submitter clinical testing

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