"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC130058 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1577471	NM_023936.2(MRPS34):c.320_321+2dup	LOC130058183, MRPS34	Duplication (splice donor variant)	not provided +1 more	GBenign
Select item 2629497	NM_023936.2(MRPS34):c.320_321insAGTA (p.Asn108fs)	LOC130058183, MRPS34 (N108fs)	Insertion (frameshift variant)	MRPS34-related condition	GLikely pathogenic
Select item 3061716	NM_023936.2(MRPS34):c.291C>T (p.Leu97=)	EME2, LOC130058183 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	MRPS34-related condition	GLikely benign

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