"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126805 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99239	NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)	ABCA4, LOC126805794 (T1253M +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1102348	NM_000350.3(ABCA4):c.3636T>A (p.Val1212=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	ABCA4-related disorder +1 more	GLikely benign