ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)

dbSNP: rs2523951441
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333648 SCV004041462 likely pathogenic Left ventricular noncompaction 8 2023-02-21 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV003492869 SCV004242203 uncertain significance PRDM16-related congenital heart disease 2023-09-18 no assertion criteria provided clinical testing

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