ClinVar Miner

Submissions for variant NM_031889.3(ENAM):c.2315C>A (p.Ala772Asp)

gnomAD frequency: 0.00018  dbSNP: rs144070672
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333302 SCV001525847 uncertain significance Amelogenesis imperfecta - hypoplastic autosomal dominant - local 2018-05-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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