ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1014T>G (p.Pro338=)

dbSNP: rs1791494484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310593 SCV001500456 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing SLC26A4: PM2:Supporting, BP4, BP7
Invitae RCV001310593 SCV002353637 likely benign not provided 2021-04-25 criteria provided, single submitter clinical testing

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