ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1872G>A (p.Ala624=)

dbSNP: rs145129878
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867552 SCV001008793 likely benign Hereditary spastic paraplegia 49 2024-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003396513 SCV004135225 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing TECPR2: BP4, BP7
Natera, Inc. RCV000867552 SCV001461377 benign Hereditary spastic paraplegia 49 2020-04-16 no assertion criteria provided clinical testing

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