"Revvity Omics, Revvity"[submitter] AND "ERCC5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441289	NM_000123.4(ERCC5):c.833C>T (p.Ser278Leu)	BIVM-ERCC5, ERCC5 (S278L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 310920	NM_000123.4(ERCC5):c.1232C>T (p.Thr411Met)	BIVM-ERCC5, ERCC5 (T411M +1 more)	Single nucleotide variant (missense variant)	Xeroderma pigmentosum, group G +2 more	GConflicting classifications of pathogenicity
Select item 2441288	NM_000123.4(ERCC5):c.1337T>C (p.Leu446Pro)	BIVM-ERCC5, ERCC5 (L446P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134189	NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu)	ERCC5, BIVM-ERCC5 (P524L +1 more)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 3 +3 more	GUncertain significance
Select item 882680	NM_000123.4(ERCC5):c.1954+5G>A	BIVM-ERCC5, ERCC5	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1324344	NM_000123.4(ERCC5):c.3130G>T (p.Glu1044Ter)	BIVM-ERCC5, ERCC5 (E1044* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

ClinVar