ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro)

dbSNP: rs567686069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001220 SCV001158381 uncertain significance not specified 2019-05-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784536 SCV002023643 likely pathogenic not provided 2023-07-16 criteria provided, single submitter clinical testing

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