ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.64G>A (p.Ala22Thr)

gnomAD frequency: 0.00002  dbSNP: rs753862645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190776 SCV000244217 uncertain significance Inborn genetic diseases 2013-05-29 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
OMIM RCV002292379 SCV000266501 pathogenic Neuronopathy, distal hereditary motor, autosomal dominant 10 2023-10-17 no assertion criteria provided literature only

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