ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.9T>A (p.Ser3=)

gnomAD frequency: 0.00002  dbSNP: rs367959044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001312147 SCV001502604 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003528288 SCV004282210 likely benign 2-aminoadipic 2-oxoadipic aciduria 2023-06-17 criteria provided, single submitter clinical testing

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