ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.690C>G (p.Leu230=)

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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 RCV003798665 SCV004581995 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-01-31 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889338 SCV004707730 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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