ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.216A>G (p.Thr72=)

gnomAD frequency: 0.00001  dbSNP: rs758432894
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001699862 SCV002585418 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing MVK: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV002538636 SCV003489091 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-12-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699862 SCV001921324 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699862 SCV001969763 likely benign not provided no assertion criteria provided clinical testing

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