ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser)

gnomAD frequency: 0.00066  dbSNP: rs202016242
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002549170 SCV001159872 uncertain significance not provided 2023-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549170 SCV003285990 benign not provided 2022-03-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002549170 SCV003822661 uncertain significance not provided 2024-01-15 criteria provided, single submitter clinical testing

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