ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1449+19G>A

gnomAD frequency: 0.07399  dbSNP: rs79201073
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245007 SCV000309378 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510312 SCV001717316 benign Hereditary spastic paraplegia 7 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001707589 SCV001935636 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001707589 SCV005253216 benign not provided criteria provided, single submitter not provided

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