ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.474T>C (p.Arg158=)

gnomAD frequency: 0.00014  dbSNP: rs374572095
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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 RCV000900742 SCV001045076 likely benign Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2024-11-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271505 SCV001452726 uncertain significance Achondrogenesis, type IB 2020-01-24 no assertion criteria provided clinical testing

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