ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.1034C>T (p.Ala345Val)

gnomAD frequency: 0.00001  dbSNP: rs763438860
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002517905 SCV002941965 benign not provided 2022-04-22 criteria provided, single submitter clinical testing
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics RCV000190541 SCV000221323 uncertain significance Spinocerebellar ataxia, X-linked no assertion criteria provided case-control

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