ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1227G>A (p.Leu409=) (rs143954788)

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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 RCV000618446 SCV000737155 likely benign Cardiovascular phenotype 2016-09-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001443001 SCV001645960 likely benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2019-07-11 criteria provided, single submitter clinical testing

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