ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2199C>T (p.Ala733=)

gnomAD frequency: 0.00003  dbSNP: rs761750187
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 RCV000460849 SCV000559677 benign Hereditary spastic paraplegia 49 2024-10-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715235 SCV005294159 benign not provided criteria provided, single submitter not provided

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