ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2325C>T (p.Ala775=)

gnomAD frequency: 0.00003  dbSNP: rs755569908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001858591 SCV002247416 likely benign 2-aminoadipic 2-oxoadipic aciduria 2022-10-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707485 SCV005226922 likely benign not provided criteria provided, single submitter not provided

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