ClinVar Miner

Submissions for variant NM_018419.3(SOX18):c.88G>T (p.Ala30Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003186163 SCV003881600 uncertain significance Inborn genetic diseases 2023-01-10 criteria provided, single submitter clinical testing The c.88G>T (p.A30S) alteration is located in exon 1 (coding exon 1) of the SOX18 gene. This alteration results from a G to T substitution at nucleotide position 88, causing the alanine (A) at amino acid position 30 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036691 SCV005664054 uncertain significance Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome 2024-06-19 criteria provided, single submitter clinical testing

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