ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser)

gnomAD frequency: 0.00081  dbSNP: rs199998420
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558931 SCV000654377 likely benign Left ventricular noncompaction 8 2023-12-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000612968 SCV000711469 likely benign not specified 2017-03-07 criteria provided, single submitter clinical testing p.Gly766Ser in exon 9 of PRDM16: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (27/9554) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs199998420).
GeneDx RCV001697380 SCV000717359 likely benign not provided 2018-12-06 criteria provided, single submitter clinical testing
Klaassen Lab, Charite University Medicine Berlin RCV000853158 SCV000995872 uncertain significance Primary familial hypertrophic cardiomyopathy 2019-07-03 criteria provided, single submitter research

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