ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.142-4T>C

gnomAD frequency: 0.00003  dbSNP: rs763744712
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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 RCV003093678 SCV003471386 likely benign Sengers syndrome; Cataract 38 2023-10-03 criteria provided, single submitter clinical testing

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