ClinVar Miner

Submissions for variant NM_001142966.3(GREB1L):c.203G>T (p.Arg68Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131071 SCV003815151 uncertain significance not provided 2021-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003131071 SCV005767268 likely benign not provided 2024-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946443 SCV004761099 uncertain significance GREB1L-related disorder 2023-10-25 no assertion criteria provided clinical testing The GREB1L c.203G>T variant is predicted to result in the amino acid substitution p.Arg68Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.021% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/18-18964212-G-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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