ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.132C>G (p.Thr44=)

dbSNP: rs1202182617
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422674 SCV001625230 likely benign Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2019-10-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831475 SCV002081844 likely benign Achondrogenesis, type IB 2021-10-04 no assertion criteria provided clinical testing

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