ClinVar Miner

Submissions for variant NM_001134663.2(SAMD13):c.23A>C (p.Asn8Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005270246 SCV005933547 uncertain significance not specified 2025-03-14 criteria provided, single submitter clinical testing The c.65A>C (p.N22T) alteration is located in exon 2 (coding exon 2) of the SAMD13 gene. This alteration results from a A to C substitution at nucleotide position 65, causing the asparagine (N) at amino acid position 22 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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