ClinVar Miner

Submissions for variant NM_001024211.2(S100A13):c.206C>T (p.Ser69Leu)

dbSNP: rs1283885643
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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 RCV004205744 SCV003696941 uncertain significance not specified 2022-09-28 criteria provided, single submitter clinical testing The c.206C>T (p.S69L) alteration is located in exon 5 (coding exon 2) of the S100A13 gene. This alteration results from a C to T substitution at nucleotide position 206, causing the serine (S) at amino acid position 69 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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