ClinVar Miner

Submissions for variant NM_000112.3(SLC26A2):c.541C>T (p.Gln181Ter) (rs1057517483)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412066 SCV000487543 likely pathogenic Diastrophic dysplasia 2016-03-16 criteria provided, single submitter clinical testing
Counsyl RCV000410110 SCV000487544 likely pathogenic Multiple epiphyseal dysplasia 4 2016-03-16 criteria provided, single submitter clinical testing
Counsyl RCV000411159 SCV000487545 likely pathogenic Atelosteogenesis type 2 2016-03-16 criteria provided, single submitter clinical testing
Counsyl RCV000409182 SCV000487546 likely pathogenic Achondrogenesis, type IB 2016-03-16 criteria provided, single submitter clinical testing

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