ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1295A>G (p.His432Arg)

gnomAD frequency: 0.00026  dbSNP: rs116443969
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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 RCV001470639 SCV001674736 likely benign Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001773753 SCV002004045 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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