ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3282G>A (p.Lys1094=)

gnomAD frequency: 0.00036  dbSNP: rs199835341
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862353 SCV001002849 benign Hereditary spastic paraplegia 49 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000862353 SCV001461384 uncertain significance Hereditary spastic paraplegia 49 2020-02-13 no assertion criteria provided clinical testing

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