ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2449G>A (p.Val817Met)

gnomAD frequency: 0.00026  dbSNP: rs199738023
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000861361 SCV001001656 benign Hereditary spastic paraplegia 49 2025-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000861361 SCV001456120 benign Hereditary spastic paraplegia 49 2020-09-16 no assertion criteria provided clinical testing

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