Table 2:

Variants identified in participants completing GT (n=20).

						Variant Classification
Site	Study Arm	Study ID	Birthplace	Gene	Variant	Commercial Lab Classification	Current ClinVar† Classification
Tampa	Intervention	03	Puerto Rico	CDH1	c.1568A>G (p.Tyr523Cys)	VUS	VUS
		09	Dominican Republic	N/A	Negative	N/A	N/A
		11	Cuba	MSH2	c.138C>G (p.His46Gln)	VUS	Likely Benign
		16	Colombia	MSH6	c.3757G>A (p.Val1253Ile)	VUS	VUS
		23	Colombia	BRIP1	c.1825A>G (p.Thr609Ala)	VUS	VUS
		25	Cuba	CHEK2	c.715G>T (p.Glu239*)	Pathogenic	Pathogenic
		27	Puerto Rico	N/A	Negative	N/A	N/A
		28	Colombia	N/A	Negative	N/A	N/A
Ponce	Intervention	62	Puerto Rico	N/A	Negative	N/A	N/A
		63	Puerto Rico	N/A	Negative	N/A	N/A
		66	Puerto Rico	N/A	Negative	N/A	N/A
		67	Puerto Rico	ATM	c.7740A>C (p.Arg2580Ser)	VUS	*Conflicting interpretations
		69	Mainland US	CHEK2	c.663C>G (p.Ile221Met)	VUS	VUS
		72	Puerto Rico	N/A	Negative	N/A	N/A
		73	Puerto Rico	N/A	Negative	N/A	N/A
		77	Puerto Rico	N/A	Negative	N/A	N/A
	Control	76	Puerto Rico	NBN	c.1999T>C (p.Ser667Pro)	VUS	*Conflicting interpretations
		78	Puerto Rico	MSH6	c.3071G>A (p.Arg1024Gln)	VUS	VUS
		81	Puerto Rico	N/A	Negative	N/A	N/A
		83	Puerto Rico	N/A	Negative	N/A	N/A

VUS = Variant of Uncertain Significance

N/A = not applicable

^†National Center for Biotechnology Information. ClinVar. Retrieved from https://www.ncbi.nlm.nih.gov/clinvar/. Accessed April 8, 2020.

^*Conflicting interpretations of pathogenicity on ClinVar, “likely benign” vs. “VUS”