"Revvity Omics, Revvity"[submitter] AND "SMN1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690494	NM_000344.4(SMN1):c.22dup (p.Ser8fs)	SMN1 (S8fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2690051	NM_000344.4(SMN1):c.317G>T (p.Gly106Val)	SMN1 (G106V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 9179	NM_000344.4(SMN1):c.346A>T (p.Ile116Phe)	SMN1 (I116F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2690718	NM_000344.4(SMN1):c.597dup (p.Met200fs)	SMN1 (M200fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2690717	NM_000344.4(SMN1):c.823G>A (p.Gly275Ser)	SMN1 (G243S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 644259	NM_000344.4(SMN1):c.862dup (p.Arg288fs)	SMN1 (R288fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar