ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.1038G>T (p.Met346Ile)

gnomAD frequency: 0.00007  dbSNP: rs770377239
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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 RCV001041554 SCV001205178 likely benign Nemaline myopathy 6 2024-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002551498 SCV003541122 uncertain significance Inborn genetic diseases 2022-03-29 criteria provided, single submitter clinical testing The c.1038G>T (p.M346I) alteration is located in exon 1 (coding exon 1) of the KBTBD13 gene. This alteration results from a G to T substitution at nucleotide position 1038, causing the methionine (M) at amino acid position 346 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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