ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1560C>T (p.Thr520=)

gnomAD frequency: 0.02598  dbSNP: rs35537424
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001523421 SCV001733123 benign 2-aminoadipic 2-oxoadipic aciduria 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718880 SCV005323825 benign not provided criteria provided, single submitter not provided

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