ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.6017G>A (p.Arg2006His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002925945 SCV003669090 uncertain significance Inborn genetic diseases 2023-01-04 criteria provided, single submitter clinical testing The c.6017G>A (p.R2006H) alteration is located in exon 28 (coding exon 28) of the SPTB gene. This alteration results from a G to A substitution at nucleotide position 6017, causing the arginine (R) at amino acid position 2006 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003491286 SCV004237732 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing

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