ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.937C>T (p.Arg313Trp)

gnomAD frequency: 0.00003  dbSNP: rs1177976401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941087 SCV002216984 likely benign Nemaline myopathy 6 2022-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003167356 SCV003888482 uncertain significance Inborn genetic diseases 2023-02-09 criteria provided, single submitter clinical testing The c.937C>T (p.R313W) alteration is located in exon 1 (coding exon 1) of the KBTBD13 gene. This alteration results from a C to T substitution at nucleotide position 937, causing the arginine (R) at amino acid position 313 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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