ClinVar Miner

Submissions for variant NM_004625.4(WNT7A):c.399C>A (p.Cys133Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
First Genomix Gene Laboratory, Genetic Diagnostics Department RCV006249440 SCV007095966 likely pathogenic Fuhrmann syndrome; Schinzel phocomelia syndrome; Santos syndrome 2025-04-09 criteria provided, single submitter clinical testing As part of Carrier Screening testing performed at First Genomix, this variant was identified in a heterozygous state in a patient who is not affected with this condition.

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