Submissions for variant NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) (rs1016086446)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GenomeConnect, ClinGen	RCV000709811	SCV000840139	not provided	2-aminoadipic 2-oxoadipic aciduria; Charcot-Marie-Tooth disease, axonal, type 2Q		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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