ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3000C>T (p.Asp1000=)

gnomAD frequency: 0.00002  dbSNP: rs200626084
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 RCV000908339 SCV001053095 likely benign Hereditary spastic paraplegia 49 2024-10-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000908339 SCV002091140 likely benign Hereditary spastic paraplegia 49 2020-02-01 no assertion criteria provided clinical testing

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