ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1311dup (p.Ala438fs)

dbSNP: rs1057517471
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411541 SCV000487502 likely pathogenic Diastrophic dysplasia 2016-02-09 criteria provided, single submitter clinical testing
Counsyl RCV000412220 SCV000487503 likely pathogenic Multiple epiphyseal dysplasia type 4 2016-02-09 criteria provided, single submitter clinical testing
Counsyl RCV000410215 SCV000487504 likely pathogenic Atelosteogenesis type II 2016-02-09 criteria provided, single submitter clinical testing
Counsyl RCV000411307 SCV000487505 likely pathogenic Achondrogenesis, type IB 2016-02-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411307 SCV005056818 likely pathogenic Achondrogenesis, type IB 2024-02-19 criteria provided, single submitter clinical testing

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