"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "RHPN1"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 715734	NM_052924.3(RHPN1):c.159C>T (p.Gly53=)	RHPN1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance

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