ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.2130G>A (p.Gly710=)

gnomAD frequency: 0.00112  dbSNP: rs193118666
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232265 SCV000290644 benign Left ventricular noncompaction 8 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001722265 SCV000716459 likely benign not provided 2022-01-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000608821 SCV005423355 benign not specified 2024-10-06 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000608821 SCV001918440 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001722265 SCV001974731 likely benign not provided no assertion criteria provided clinical testing

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