ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys)

gnomAD frequency: 0.00004  dbSNP: rs761263852
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001171655 SCV000615458 uncertain significance not provided 2020-07-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171655 SCV001334457 uncertain significance not provided 2020-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001171655 SCV002166325 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527533 SCV003751081 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.2647C>T (p.R883C) alteration is located in exon 14 (coding exon 13) of the SPTBN2 gene. This alteration results from a C to T substitution at nucleotide position 2647, causing the arginine (R) at amino acid position 883 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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