ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.196T>C (p.Phe66Leu)

gnomAD frequency: 0.00010  dbSNP: rs200981220
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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 RCV001434148 SCV001636951 likely benign Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001751765 SCV001986616 uncertain significance not provided 2020-01-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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