ClinVar Miner

Submissions for variant NM_000888.5(ITGB6):c.718G>A (p.Glu240Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Payam Genetics Center, General Welfare Department of North Khorasan Province RCV003152657 SCV003841234 likely pathogenic Amelogenesis imperfecta type 1H 2023-02-01 no assertion criteria provided clinical testing

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