ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.-3G>A

gnomAD frequency: 0.00010  dbSNP: rs190179991
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
GeneDx RCV001569809 SCV001793963 likely benign not provided 2020-09-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277534 SCV001464494 benign Hereditary spastic paraplegia 49 2020-04-16 no assertion criteria provided clinical testing

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