ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2320-25A>G

gnomAD frequency: 0.95721  dbSNP: rs2399771
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658437 SCV001871834 benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658436 SCV001876697 benign Charcot-Marie-Tooth disease axonal type 2Q 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658435 SCV001876698 benign 2-aminoadipic 2-oxoadipic aciduria 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658437 SCV005323841 benign not provided criteria provided, single submitter not provided

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