ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.1716G>C (p.Gly572=)

gnomAD frequency: 0.00001  dbSNP: rs773112898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002132889 SCV002436756 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV002132889 SCV003918551 uncertain significance not provided 2022-10-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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