"Claritas Genomics"[submitter] AND "PGBD3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1703	NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	ERCC6, PGBD3 (R453*)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure 11 +7 more	GPathogenic
Select item 190146	NM_000124.4(ERCC6):c.1280dup (p.Ser429fs)	ERCC6, PGBD3 (S429fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 129013	NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)	ERCC6, PGBD3 (G399D)	Single nucleotide variant (missense variant +1 more)	COFS syndrome +8 more	GBenign/Likely benign

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ClinVar