ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1911A>C (p.Pro637=)

gnomAD frequency: 0.95314  dbSNP: rs1701472
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001522638 SCV001732220 benign 2-aminoadipic 2-oxoadipic aciduria 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658231 SCV001876690 benign Charcot-Marie-Tooth disease axonal type 2Q 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001522638 SCV001876691 benign 2-aminoadipic 2-oxoadipic aciduria 2021-07-30 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699804 SCV001923570 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001699804 SCV001962714 benign not specified no assertion criteria provided clinical testing

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