ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1638G>A (p.Thr546=)

gnomAD frequency: 0.00003  dbSNP: rs768273816
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001447811 SCV001650887 likely benign Hereditary spastic paraplegia 49 2024-03-25 criteria provided, single submitter clinical testing

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