ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004197759 SCV003694357 uncertain significance not specified 2022-01-19 criteria provided, single submitter clinical testing The c.409C>A (p.R137S) alteration is located in exon 4 (coding exon 4) of the SPTA1 gene. This alteration results from a C to A substitution at nucleotide position 409, causing the arginine (R) at amino acid position 137 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140201 SCV003822635 uncertain significance not provided 2022-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003140201 SCV004521227 benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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