ClinVar Miner

Submissions for variant NM_004526.4(MCM2):c.1231G>A (p.Glu411Lys)

gnomAD frequency: 0.00001  dbSNP: rs373695678
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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 RCV001334274 SCV001527074 uncertain significance Autosomal dominant nonsyndromic hearing loss 70 2018-03-01 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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