ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.144C>T (p.Cys48=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003802826 SCV004592884 likely benign Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia 2023-08-29 criteria provided, single submitter clinical testing

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