ClinVar Miner

Submissions for variant NM_001388306.1(MIDN):c.1483G>A (p.Val495Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV004733988 SCV005367913 uncertain significance Congenital long QT syndrome no assertion criteria provided research The c.1354G>A missense variant in MIDN is present in gnomAD with an allele count of 6 and no homozygous individuals reported (PM2). It is present in our patient and his affected brother. SIFT predictions indicate an uncertain impact (0.008). ACMG codes: PM1, PM2.

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