ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.102G>A (p.Ala34=)

gnomAD frequency: 0.00040  dbSNP: rs374918897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557090 SCV000654357 benign Left ventricular noncompaction 8 2024-01-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000614521 SCV000711466 likely benign not specified 2016-05-06 criteria provided, single submitter clinical testing p.Ala34Ala in exon 2 of PRDM16: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (11/9332) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs374918897).
GeneDx RCV001580517 SCV001817557 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing

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