ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.1134C>G (p.Ser378=)

gnomAD frequency: 0.00088  dbSNP: rs200169663
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222431 SCV000270749 likely benign not specified 2014-11-24 criteria provided, single submitter clinical testing p.Ser378Ser in exon 8 of PRDM16: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.1% (7/8590) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS).
GeneDx RCV001722161 SCV000534351 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21750719)
Invitae RCV000463379 SCV000556958 benign Left ventricular noncompaction 8 2024-01-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001722161 SCV003916034 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing PRDM16: BP4, BP7

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