Submissions for variant NM_022114.4(PRDM16):c.49G>A (p.Val17Ile)

gnomAD frequency: 0.00137  dbSNP: rs183153140

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000548450	SCV000654402	likely benign	Left ventricular noncompaction 8	2024-12-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001696956	SCV000721349	likely benign	not provided	2021-03-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27650965)
Breakthrough Genomics, Breakthrough Genomics	RCV001696956	SCV005261505	likely benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001696956	SCV005878376	likely benign	not provided	2024-07-30	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000615310	SCV001922247	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001696956	SCV001965741	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935513	SCV004759476	likely benign	PRDM16-related disorder	2020-06-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).