ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2048-4C>T

gnomAD frequency: 0.00022  dbSNP: rs375385370
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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 RCV000908452 SCV001053217 likely benign 2-aminoadipic 2-oxoadipic aciduria 2023-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002065775 SCV002497020 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing

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