ClinVar Miner

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

gnomAD frequency: 0.95652  dbSNP: rs1701472
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522638 SCV001732220 benign 2-aminoadipic 2-oxoadipic aciduria 2025-02-04 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
Breakthrough Genomics, Breakthrough Genomics RCV004718878 SCV005323833 benign not provided criteria provided, single submitter not provided
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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