ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.1599G>A (p.Ser533=)

gnomAD frequency: 0.00059  dbSNP: rs373205864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471293 SCV000556956 benign Left ventricular noncompaction 8 2024-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000615133 SCV000722411 likely benign not specified 2017-08-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Fulgent Genetics, Fulgent Genetics RCV000471293 SCV002802307 likely benign Left ventricular noncompaction 8 2021-09-01 criteria provided, single submitter clinical testing

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