ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.66C>A (p.Asp22Glu)

gnomAD frequency: 0.00003  dbSNP: rs1261515174
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klaassen Lab, Charite University Medicine Berlin RCV000853154 SCV000995867 uncertain significance Primary familial hypertrophic cardiomyopathy 2019-07-03 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV003424373 SCV004126997 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing LDB3: PM2

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