ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.936C>T (p.His312=)

dbSNP: rs1212639017
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000584990 SCV000692757 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767319 SCV004586677 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-12-29 criteria provided, single submitter clinical testing

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