ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1041G>A (p.Thr347=)

gnomAD frequency: 0.00057  dbSNP: rs181104203
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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 RCV000887136 SCV001030676 benign 2-aminoadipic 2-oxoadipic aciduria 2024-01-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811534 SCV002048397 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001811534 SCV004126445 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing DHTKD1: BP4, BP7

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