ClinVar Miner

Submissions for variant NM_022916.6(VPS33A):c.624G>A (p.Arg208=)

gnomAD frequency: 0.00267  dbSNP: rs2277335
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000879696 SCV001022743 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000879696 SCV001937841 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501366 SCV002809433 likely benign Mucopolysaccharidosis-plus syndrome 2021-10-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000879696 SCV005234497 benign not provided criteria provided, single submitter not provided

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