ClinVar Miner

Submissions for variant NM_153646.4(SLC24A4):c.437C>T (p.Ala146Val)

dbSNP: rs587777537
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000128623 SCV000172257 pathogenic Amelogenesis imperfecta hypomaturation type 2A5 2014-03-12 no assertion criteria provided literature only

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