ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1371C>T (p.Ser457=)

gnomAD frequency: 0.00001  dbSNP: rs760150534
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002113907 SCV002440634 likely benign 2-aminoadipic 2-oxoadipic aciduria 2022-07-06 criteria provided, single submitter clinical testing

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