ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1058A>G (p.His353Arg)

dbSNP: rs1392464335
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578950 SCV001806316 uncertain significance Achondrogenesis, type IB 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578951 SCV001806317 uncertain significance Atelosteogenesis type II 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578952 SCV001806318 uncertain significance Diastrophic dysplasia 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578953 SCV001806319 uncertain significance Multiple epiphyseal dysplasia type 4 2021-07-22 criteria provided, single submitter clinical testing

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