ClinVar Miner

Submissions for variant NM_014231.5(VAMP1):c.252C>A (p.Ala84=)

gnomAD frequency: 0.27430  dbSNP: rs2072375
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289416 SCV001477207 benign not specified 2019-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519990 SCV001728959 benign Spastic paraplegia 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001664803 SCV001873290 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245945 SCV002514417 benign Myasthenic syndrome, congenital, 25, presynaptic 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245944 SCV002514418 benign Spastic ataxia 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001664803 SCV005236866 benign not provided criteria provided, single submitter not provided

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