ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2523C>T (p.Phe841=)

gnomAD frequency: 0.01095  dbSNP: rs12769375
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 RCV000961987 SCV001109047 benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811550 SCV002049520 benign not provided 2020-12-12 criteria provided, single submitter clinical testing

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