ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1668G>T (p.Leu556Phe)

dbSNP: rs2113699055
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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 RCV001578825 SCV001806158 uncertain significance Achondrogenesis, type IB 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578826 SCV001806159 uncertain significance Atelosteogenesis type II 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578827 SCV001806160 uncertain significance Diastrophic dysplasia 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578828 SCV001806161 uncertain significance Multiple epiphyseal dysplasia type 4 2021-07-22 criteria provided, single submitter clinical testing

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