ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2234G>A (p.Arg745Gln)

gnomAD frequency: 0.00009  dbSNP: rs374972168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001278889 SCV002785626 uncertain significance Hereditary spastic paraplegia 49 2021-11-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278889 SCV001465935 uncertain significance Hereditary spastic paraplegia 49 2020-04-16 no assertion criteria provided clinical testing

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