ClinVar Miner

Submissions for variant NM_152415.3(VPS37A):c.637A>G (p.Ile213Val)

gnomAD frequency: 0.00252  dbSNP: rs17687375
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000337249 SCV000336662 benign not specified 2015-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861965 SCV001002387 benign Hereditary spastic paraplegia 53 2025-01-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848055 SCV002105990 likely benign Hereditary spastic paraplegia 2017-11-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705139 SCV005220569 likely benign not provided criteria provided, single submitter not provided

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