ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.951C>T (p.Asn317=)

gnomAD frequency: 0.07832  dbSNP: rs3740016
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521617 SCV001730989 benign 2-aminoadipic 2-oxoadipic aciduria 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001647314 SCV001857825 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530126 SCV001744806 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001530126 SCV001925187 benign not specified no assertion criteria provided clinical testing

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