ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3507C>T (p.Ala1169=)

gnomAD frequency: 0.00004  dbSNP: rs775448295
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 RCV000867118 SCV001008311 likely benign Hereditary spastic paraplegia 49 2024-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000867118 SCV001454399 uncertain significance Hereditary spastic paraplegia 49 2020-04-17 no assertion criteria provided clinical testing

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