ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.1059T>C (p.His353=)

gnomAD frequency: 0.00006  dbSNP: rs114841644
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000907800 SCV001052527 likely benign Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2023-12-31 criteria provided, single submitter clinical testing

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