ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.378G>A (p.Ala126=) (rs149872184)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558934 SCV000638667 benign not provided 2018-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617604 SCV000736476 likely benign Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001518395 SCV001727073 benign Myofibrillar myopathy, ZASP-related 2020-09-15 criteria provided, single submitter clinical testing

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