ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1551G>A (p.Ala517=)

gnomAD frequency: 0.00004  dbSNP: rs112910106
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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 RCV002065486 SCV002397572 likely benign 2-aminoadipic 2-oxoadipic aciduria 2023-09-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413708 SCV004126446 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing DHTKD1: BP4, BP7

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