ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn)

gnomAD frequency: 0.00003  dbSNP: rs201463616
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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 RCV001810778 SCV002048274 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001810778 SCV004269122 benign not provided 2023-10-27 criteria provided, single submitter clinical testing

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