"Pars Genome Lab"[submitter] AND "DCLRE1C"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 499762	NM_001033855.3(DCLRE1C):c.1288A>G (p.Arg430Gly)	DCLRE1C (R430G +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency +1 more	GUncertain significance
Select item 287735	NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)	DCLRE1C (K428N +2 more)	Single nucleotide variant (missense variant +1 more)	Severe combined immunodeficiency due to DCLRE1C deficiency	GBenign FDA Recognized database