ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1424C>T (p.Pro475Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333574 SCV004041282 uncertain significance Simpson-Golabi-Behmel syndrome type 2 2023-02-15 criteria provided, single submitter clinical testing
GeneDx RCV004593265 SCV005081295 uncertain significance not provided 2023-12-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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