ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.498C>T (p.Ala166=)

gnomAD frequency: 0.00001  dbSNP: rs748557845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436767 SCV000520478 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766226 SCV004605283 likely benign Sengers syndrome; Cataract 38 2024-02-08 criteria provided, single submitter clinical testing

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