ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2121C>A (p.Asp707Glu)

gnomAD frequency: 0.00470  dbSNP: rs35046964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000968152 SCV001115588 benign 2-aminoadipic 2-oxoadipic aciduria 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505466 SCV002809530 likely benign 2-aminoadipic 2-oxoadipic aciduria; Charcot-Marie-Tooth disease axonal type 2Q 2022-02-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718798 SCV005323839 benign not provided criteria provided, single submitter not provided

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